Canonical Allele Identifier: CA361805901
Gene: GM2A HGNC NCBI

Linked Data

dbSNP Id: rs730882196

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259837C>G , CM000667.2:g.151259837C>G GRCh38
NC_000005.9:g.150639398C>G , CM000667.1:g.150639398C>G GRCh37
NC_000005.8:g.150619591C>G NCBI36
NG_009059.1:g.11786C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.164C>G MANE Select ENSP00000349687.3:p.Pro55Arg
ENST00000357164.3:c.164C>G ENSP00000349687.3:p.Pro55Arg
ENST00000523004.1:c.39C>G
ENST00000523466.5:c.209C>G ENSP00000429100.1:p.Pro70Arg
NM_000405.4:c.164C>G NP_000396.2:p.Pro55Arg
NM_001167607.1:c.164C>G NP_001161079.1:p.Pro55Arg
NM_000405.5:c.164C>G MANE Select NP_000396.2:p.Pro55Arg
NM_001167607.2:c.164C>G NP_001161079.1:p.Pro55Arg
NM_001167607.3:c.164C>G NP_001161079.1:p.Pro55Arg