Canonical Allele Identifier: CA447179938
Gene: GM2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.150639459C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259898C>T , CM000667.2:g.151259898C>T GRCh38
NC_000005.9:g.150639459C>T , CM000667.1:g.150639459C>T GRCh37
NC_000005.8:g.150619652C>T NCBI36
NG_009059.1:g.11847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.225C>T MANE Select ENSP00000349687.3:p.Pro75=
ENST00000357164.3:c.225C>T ENSP00000349687.3:p.Pro75=
ENST00000523004.1:c.100C>T
ENST00000523466.5:c.270C>T ENSP00000429100.1:p.Pro90=
NM_000405.4:c.225C>T NP_000396.2:p.Pro75=
NM_001167607.1:c.225C>T NP_001161079.1:p.Pro75=
NM_000405.5:c.225C>T MANE Select NP_000396.2:p.Pro75=
NM_001167607.2:c.225C>T NP_001161079.1:p.Pro75=
NM_001167607.3:c.225C>T NP_001161079.1:p.Pro75=