Canonical Allele Identifier: CA344392274
Community Standard Title: NM_001005388.3(NFASC):c.3673G>A (p.Glu1225Lys)
Gene: NFASC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205016489G>A , CM000663.2:g.205016489G>A GRCh38
NC_000001.10:g.204985617G>A , CM000663.1:g.204985617G>A GRCh37
NC_000001.9:g.203252240G>A NCBI36
NG_029938.1:g.192836G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001005388.3:c.3673G>A MANE Select NP_001005388.2:p.Glu1225Lys
ENST00000339876.11:c.3673G>A MANE Select ENSP00000344786.6:p.Glu1225Lys
NM_001160331.2:c.3520G>A MANE Plus Clinical NP_001153803.1:p.Glu1174Lys
ENST00000539706.6:c.3520G>A MANE Plus Clinical ENSP00000438614.2:p.Glu1174Lys
NM_001005388.2:c.3673G>A NP_001005388.2:p.Glu1225Lys
NM_001160331.1:c.3520G>A NP_001153803.1:p.Glu1174Lys
NM_001160332.1:c.3475G>A NP_001153804.1:p.Glu1159Lys
NM_001160332.2:c.3475G>A NP_001153804.1:p.Glu1159Lys
NM_001365986.1:c.3139G>A NP_001352915.1:p.Glu1047Lys
NM_001378329.1:c.3994G>A NP_001365258.1:p.Glu1332Lys
NM_015090.3:c.3460G>A NP_055905.2:p.Glu1154Lys
NM_015090.4:c.3460G>A NP_055905.2:p.Glu1154Lys
ENST00000339876.10:c.3673G>A ENSP00000344786.6:p.Glu1225Lys
ENST00000360049.8:c.3460G>A ENSP00000353154.4:p.Glu1154Lys
ENST00000367173.7:c.3075G>A
ENST00000401399.5:c.3673G>A ENSP00000385637.1:p.Glu1225Lys
ENST00000404076.5:c.3424G>A ENSP00000385676.1:p.Glu1142Lys
ENST00000404907.5:c.3475G>A ENSP00000384061.1:p.Glu1159Lys
ENST00000425360.5:c.846G>A
ENST00000430393.5:c.3448G>A ENSP00000415031.1:p.Glu1150Lys
ENST00000430393.6:c.3520G>A ENSP00000415031.2:p.Glu1174Lys
ENST00000430393.7:c.3475G>A ENSP00000415031.3:p.Glu1159Lys
ENST00000447819.1:c.607G>A ENSP00000416891.1:p.Glu203Lys
ENST00000495396.5:n.1577G>A
ENST00000503221.1:n.1496G>A
ENST00000504476.5:c.*2151G>A ENSP00000422524.1:n.*2151G>A
ENST00000513543.5:c.3460G>A ENSP00000425908.1:p.Glu1154Lys
ENST00000513543.6:c.3460G>A ENSP00000425908.1:p.Glu1154Lys
ENST00000539706.5:c.3475G>A ENSP00000438614.1:p.Glu1159Lys
XM_005244989.3:c.3751G>A XP_005245046.2:p.Glu1251Lys
XM_005244991.3:c.3706G>A XP_005245048.2:p.Glu1236Lys
XM_005244992.3:c.3691G>A XP_005245049.2:p.Glu1231Lys
XM_005244992.4:c.3691G>A XP_005245049.2:p.Glu1231Lys
XM_005244993.3:c.3655G>A XP_005245050.2:p.Glu1219Lys
XM_011509311.1:c.4030G>A XP_011507613.1:p.Glu1344Lys
XM_011509311.2:c.4477G>A XP_011507613.2:p.Glu1493Lys
XM_011509312.1:c.4258G>A XP_011507614.1:p.Glu1420Lys
XM_011509313.1:c.4000G>A XP_011507615.1:p.Glu1334Lys
XM_011509314.1:c.4207G>A XP_011507616.1:p.Glu1403Lys
XM_011509315.1:c.3949G>A XP_011507617.1:p.Glu1317Lys
XM_011509316.1:c.4045G>A XP_011507618.1:p.Glu1349Lys
XM_011509317.1:c.3892G>A XP_011507619.1:p.Glu1298Lys
XM_011509318.1:c.4333G>A XP_011507620.1:p.Glu1445Lys
XM_011509318.2:c.4333G>A XP_011507620.1:p.Glu1445Lys
XM_011509319.1:c.3994G>A XP_011507621.1:p.Glu1332Lys
XM_011509320.1:c.4282G>A XP_011507622.1:p.Glu1428Lys
XM_011509320.2:c.4282G>A XP_011507622.1:p.Glu1428Lys
XM_011509321.1:c.3808G>A XP_011507623.1:p.Glu1270Lys
XM_011509321.2:c.4255G>A XP_011507623.2:p.Glu1419Lys
XM_011509322.1:c.3775G>A XP_011507624.1:p.Glu1259Lys
XM_011509322.2:c.4222G>A XP_011507624.2:p.Glu1408Lys
XM_011509323.1:c.3724G>A XP_011507625.1:p.Glu1242Lys
XM_011509323.2:c.4171G>A XP_011507625.2:p.Glu1391Lys
XM_011509324.1:c.3538G>A XP_011507626.1:p.Glu1180Lys
XM_011509325.1:c.3523G>A XP_011507627.1:p.Glu1175Lys
XM_011509325.2:c.3970G>A XP_011507627.2:p.Glu1324Lys
XM_011509326.1:c.3217G>A XP_011507628.1:p.Glu1073Lys
XM_011509326.2:c.3664G>A XP_011507628.2:p.Glu1222Lys
XM_011509327.1:c.3202G>A XP_011507629.1:p.Glu1068Lys
XM_011509327.2:c.3649G>A XP_011507629.2:p.Glu1217Lys
XM_011509328.1:c.3166G>A XP_011507630.1:p.Glu1056Lys
XM_011509328.2:c.3613G>A XP_011507630.2:p.Glu1205Lys
XM_017000733.1:c.4213G>A XP_016856222.1:p.Glu1405Lys
XM_017000734.1:c.4162G>A XP_016856223.1:p.Glu1388Lys
XM_017000738.1:c.3781G>A XP_016856227.1:p.Glu1261Lys
XM_017000739.1:c.3766G>A XP_016856228.1:p.Glu1256Lys
XM_017000740.1:c.3445G>A XP_016856229.1:p.Glu1149Lys
XM_017000741.1:c.2884G>A XP_016856230.1:p.Glu962Lys
XM_017000742.2:c.2563G>A XP_016856231.1:p.Glu855Lys
XM_024454283.1:c.4492G>A XP_024310051.1:p.Glu1498Lys
XM_024454285.1:c.4447G>A XP_024310053.1:p.Glu1483Lys
XM_024454288.1:c.4441G>A XP_024310056.1:p.Glu1481Lys
XM_024454292.1:c.4396G>A XP_024310060.1:p.Glu1466Lys
XM_024454296.1:c.4120G>A XP_024310064.1:p.Glu1374Lys
XM_024454297.1:c.3985G>A XP_024310065.1:p.Glu1329Lys
XM_024454299.1:c.3940G>A XP_024310067.1:p.Glu1314Lys
XM_024454300.1:c.3673G>A XP_024310068.1:p.Glu1225Lys