Canonical Allele Identifier: CA1591312121
Gene: GM2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259884A= , CM000667.2:g.151259884A= GRCh38
NC_000005.9:g.150639445A= , CM000667.1:g.150639445A= GRCh37
NC_000005.8:g.150619638A= NCBI36
NG_009059.1:g.11833A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.211A= MANE Select ENSP00000349687.3:p.Ser71=
ENST00000357164.3:c.211A= ENSP00000349687.3:p.Ser71=
ENST00000523004.1:c.86A=
ENST00000523466.5:c.256A= ENSP00000429100.1:p.Ser86=
NM_000405.4:c.211A= NP_000396.2:p.Ser71=
NM_001167607.1:c.211A= NP_001161079.1:p.Ser71=
NM_000405.5:c.211A= MANE Select NP_000396.2:p.Ser71=
NM_001167607.2:c.211A= NP_001161079.1:p.Ser71=
NM_001167607.3:c.211A= NP_001161079.1:p.Ser71=