Canonical Allele Identifier: CA361805987
Gene: GM2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259881G>A , CM000667.2:g.151259881G>A GRCh38
NC_000005.9:g.150639442G>A , CM000667.1:g.150639442G>A GRCh37
NC_000005.8:g.150619635G>A NCBI36
NG_009059.1:g.11830G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.208G>A MANE Select ENSP00000349687.3:p.Gly70Ser
ENST00000357164.3:c.208G>A ENSP00000349687.3:p.Gly70Ser
ENST00000523004.1:c.83G>A
ENST00000523466.5:c.253G>A ENSP00000429100.1:p.Gly85Ser
NM_000405.4:c.208G>A NP_000396.2:p.Gly70Ser
NM_001167607.1:c.208G>A NP_001161079.1:p.Gly70Ser
NM_000405.5:c.208G>A MANE Select NP_000396.2:p.Gly70Ser
NM_001167607.2:c.208G>A NP_001161079.1:p.Gly70Ser
NM_001167607.3:c.208G>A NP_001161079.1:p.Gly70Ser