Canonical Allele Identifier: CA114233
Gene: GM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 390
ClinVar RCV Id: RCV000000421
dbSNP Id: rs137852797

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151266899T>C , CM000667.2:g.151266899T>C GRCh38
NC_000005.9:g.150646460T>C , CM000667.1:g.150646460T>C GRCh37
NC_000005.8:g.150626653T>C NCBI36
NG_009059.1:g.18848T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.412T>C MANE Select ENSP00000349687.3:p.Cys138Arg
ENST00000357164.3:c.412T>C ENSP00000349687.3:p.Cys138Arg
ENST00000523004.1:c.287T>C
NM_000405.4:c.412T>C NP_000396.2:p.Cys138Arg
NM_001167607.1:c.412T>C NP_001161079.1:p.Cys138Arg
NM_000405.5:c.412T>C MANE Select NP_000396.2:p.Cys138Arg
NM_001167607.2:c.412T>C NP_001161079.1:p.Cys138Arg
NM_001167607.3:c.412T>C NP_001161079.1:p.Cys138Arg