Canonical Allele Identifier: CA14215399
Gene: ACSM1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs151222

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20663170G>C , CM000678.2:g.20663170G>C GRCh38
NC_000016.9:g.20674492G>C , CM000678.1:g.20674492G>C GRCh37
NC_000016.8:g.20581993G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_052956.2:c.913-1297C>G VV NP_443188.2:p.=
XM_005255084.1:c.913-1297C>G XP_005255141.1:p.=
XM_006721016.1:c.913-1297C>G XP_006721079.1:p.=
XM_006721017.1:c.913-1297C>G XP_006721080.1:p.=
XM_006721018.1:c.253-1297C>G XP_006721081.1:p.=
XM_011545729.1:c.913-1297C>G XP_011544031.1:p.=
XM_011545730.1:c.913-1297C>G XP_011544032.1:p.=
XM_011545731.1:c.316-1297C>G XP_011544033.1:p.=
XM_011545732.1:c.253-1297C>G XP_011544034.1:p.=
XR_243258.1:n.960-1297C>G
XR_429672.1:n.960-1297C>G
XR_950737.1:n.960-1297C>G
XR_950738.1:n.960-1297C>G
XR_950740.1:n.960-1297C>G
NM_001318890.1:c.913-1297C>G VV NP_001305819.1:p.=
NR_134918.1:n.1042-1297C>G
XM_006721016.3:c.913-1297C>G
XM_006721017.3:c.913-1297C>G
XM_006721018.2:c.253-1297C>G
XM_011545729.3:c.913-1297C>G
XM_011545730.3:c.913-1297C>G
XM_011545731.2:c.316-1297C>G
XM_011545732.2:c.253-1297C>G
XM_017022914.2:c.913-1297C>G XP_016878403.1:p.=
XM_017022915.1:c.199-1297C>G XP_016878404.1:p.=
XM_024450148.1:c.253-1297C>G XP_024305916.1:p.=
XR_001751827.2:n.1072-1297C>G
XR_001751828.2:n.1072-1297C>G
XR_243258.3:n.1072-1297C>G
XR_429672.3:n.1072-1297C>G
XR_950737.3:n.1072-1297C>G
XR_950738.3:n.1072-1297C>G
ENST00000307493.8:c.913-1297C>G ENSP00000301956.3:p.=
ENST00000519031.5:n.339-1297C>G
ENST00000519745.5:c.*359-1297C>G ENSP00000428650.1:p.=
ENST00000520010.5:c.913-1297C>G ENSP00000428047.1:p.=
ENST00000524149.5:n.30-1297C>G
ENST00000568235.5:c.-190+52860G>C ENSP00000457003.1:p.=