Canonical Allele Identifier: CA361805942
Gene: GM2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259860A>G , CM000667.2:g.151259860A>G GRCh38
NC_000005.9:g.150639421A>G , CM000667.1:g.150639421A>G GRCh37
NC_000005.8:g.150619614A>G NCBI36
NG_009059.1:g.11809A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.187A>G MANE Select ENSP00000349687.3:p.Asn63Asp
ENST00000357164.3:c.187A>G ENSP00000349687.3:p.Asn63Asp
ENST00000523004.1:c.62A>G
ENST00000523466.5:c.232A>G ENSP00000429100.1:p.Asn78Asp
NM_000405.4:c.187A>G NP_000396.2:p.Asn63Asp
NM_001167607.1:c.187A>G NP_001161079.1:p.Asn63Asp
NM_000405.5:c.187A>G MANE Select NP_000396.2:p.Asn63Asp
NM_001167607.2:c.187A>G NP_001161079.1:p.Asn63Asp
NM_001167607.3:c.187A>G NP_001161079.1:p.Asn63Asp