Canonical Allele Identifier: CA341341437
Community Standard Title: NM_000642.3(AGL):c.4243A>T (p.Lys1415Ter)
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99915470A>T , CM000663.2:g.99915470A>T GRCh38
NC_000001.10:g.100381026A>T , CM000663.1:g.100381026A>T GRCh37
NC_000001.9:g.100153614A>T NCBI36
NG_012865.1:g.70387A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000642.3:c.4243A>T MANE Select NP_000633.2:p.Lys1415Ter
ENST00000361915.8:c.4243A>T MANE Select ENSP00000355106.3:p.Lys1415Ter
NM_000028.2:c.4243A>T NP_000019.2:p.Lys1415Ter
NM_000642.2:c.4243A>T NP_000633.2:p.Lys1415Ter
NM_000643.2:c.4243A>T NP_000634.2:p.Lys1415Ter
NM_000644.2:c.4243A>T NP_000635.2:p.Lys1415Ter
NM_000645.2:c.4192A>T NP_000636.2:p.Lys1398Ter
NM_000646.2:c.4195A>T NP_000637.2:p.Lys1399Ter
ENST00000294724.8:c.4243A>T ENSP00000294724.4:p.Lys1415Ter
ENST00000361302.7:c.4195A>T ENSP00000354971.3:p.Lys1399Ter
ENST00000361522.4:c.4192A>T ENSP00000354635.4:p.Lys1398Ter
ENST00000361915.7:c.4243A>T ENSP00000355106.3:p.Lys1415Ter
ENST00000370161.6:c.4195A>T ENSP00000359180.2:p.Lys1399Ter
ENST00000370163.7:c.4243A>T ENSP00000359182.3:p.Lys1415Ter
ENST00000370165.7:c.4243A>T ENSP00000359184.3:p.Lys1415Ter
ENST00000637337.1:n.4454A>T
XM_005270557.1:c.4243A>T XP_005270614.1:p.Lys1415Ter
XM_005270557.2:c.4243A>T XP_005270614.1:p.Lys1415Ter
XM_017000501.2:c.2503A>T XP_016855990.1:p.Lys835Ter
XR_947626.1:n.1318-2253T>A
XR_947627.1:n.1207-2253T>A
XR_947628.1:n.1312-2253T>A
XR_947630.1:n.1250-2253T>A
XR_947632.1:n.1136-2253T>A
XR_947633.1:n.1247-2253T>A
XR_947634.1:n.661-2253T>A
XR_947635.1:n.729-2253T>A