Canonical Allele Identifier: CA361806003
Gene: GM2A HGNC NCBI

Linked Data

dbSNP Id: rs1237590287

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259887A>T , CM000667.2:g.151259887A>T GRCh38
NC_000005.9:g.150639448A>T , CM000667.1:g.150639448A>T GRCh37
NC_000005.8:g.150619641A>T NCBI36
NG_009059.1:g.11836A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.214A>T MANE Select ENSP00000349687.3:p.Thr72Ser
ENST00000357164.3:c.214A>T ENSP00000349687.3:p.Thr72Ser
ENST00000523004.1:c.89A>T
ENST00000523466.5:c.259A>T ENSP00000429100.1:p.Thr87Ser
NM_000405.4:c.214A>T NP_000396.2:p.Thr72Ser
NM_001167607.1:c.214A>T NP_001161079.1:p.Thr72Ser
NM_000405.5:c.214A>T MANE Select NP_000396.2:p.Thr72Ser
NM_001167607.2:c.214A>T NP_001161079.1:p.Thr72Ser
NM_001167607.3:c.214A>T NP_001161079.1:p.Thr72Ser