Canonical Allele Identifier: CA8238231
Gene: ACSF3 HGNC NCBI

Linked Data

dbSNP Id: rs756311395

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89145383G>A , CM000678.2:g.89145383G>A GRCh38
NC_000016.9:g.89211791G>A , CM000678.1:g.89211791G>A GRCh37
NC_000016.8:g.87739292G>A NCBI36
NG_031961.1:g.56575G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1483G>A ENSP00000320646.4:p.Ala495Thr
ENST00000614302.5:c.1483G>A MANE Select ENSP00000479130.1:p.Ala495Thr
ENST00000649953.1:c.1693G>A ENSP00000497456.1:p.Ala565Thr
ENST00000317447.8:c.1483G>A ENSP00000320646.4:p.Ala495Thr
ENST00000378345.8:c.688G>A ENSP00000367596.4:p.Ala230Thr
ENST00000406948.7:c.1483G>A ENSP00000384627.3:p.Ala495Thr
ENST00000537116.5:n.609G>A
ENST00000537155.1:n.223G>A
ENST00000542688.5:c.*227G>A ENSP00000446281.1:n.*227G>A
ENST00000544543.5:c.688G>A ENSP00000442781.1:p.Ala230Thr
ENST00000562204.1:n.456G>A
ENST00000614302.4:c.1483G>A ENSP00000479130.1:p.Ala495Thr
NM_001127214.3:c.1483G>A NP_001120686.1:p.Ala495Thr
NM_001243279.2:c.1483G>A NP_001230208.1:p.Ala495Thr
NM_001284316.1:c.688G>A NP_001271245.1:p.Ala230Thr
NM_174917.4:c.1483G>A NP_777577.2:p.Ala495Thr
NR_045667.2:n.609G>A
NR_104293.1:n.1917G>A
XM_005256293.1:c.1483G>A XP_005256350.1:p.Ala495Thr
XM_011522942.1:c.1483G>A XP_011521244.1:p.Ala495Thr
XM_011522943.1:c.1483G>A XP_011521245.1:p.Ala495Thr
XR_933239.1:n.1924G>A
XR_933240.1:n.1921G>A
XR_933241.1:n.1678G>A
NR_147928.1:n.1961G>A
NR_147929.1:n.1715G>A
XM_005256293.2:c.1483G>A XP_005256350.1:p.Ala495Thr
XM_017023018.1:c.1483G>A XP_016878507.1:p.Ala495Thr
XM_017023019.1:c.1483G>A XP_016878508.1:p.Ala495Thr
XM_017023020.2:c.-3622G>A XP_016878509.1:n.-3622G>A
XM_017023022.1:c.616G>A XP_016878511.1:p.Ala206Thr
XM_024450186.1:c.688G>A XP_024305954.1:p.Ala230Thr
XM_024450187.1:c.688G>A XP_024305955.1:p.Ala230Thr
XR_001751864.2:n.1730G>A
XR_001751865.1:n.1677G>A
XR_933240.3:n.1920G>A
NM_001127214.4:c.1483G>A NP_001120686.1:p.Ala495Thr
NM_001243279.3:c.1483G>A MANE Select NP_001230208.1:p.Ala495Thr
NM_001284316.2:c.688G>A NP_001271245.1:p.Ala230Thr
NM_174917.5:c.1483G>A NP_777577.2:p.Ala495Thr
NR_104293.2:n.1874G>A
NR_147928.2:n.1918G>A
NR_147929.2:n.1672G>A