Canonical Allele Identifier: CA447179883

Gene: GM2A

Linked Data

• MyVariant Identifiers: chr5:g.150639408C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259847C>A , CM000667.2:g.151259847C>A	GRCh38
NC_000005.9:g.150639408C>A , CM000667.1:g.150639408C>A	GRCh37
NC_000005.8:g.150619601C>A	NCBI36
NG_009059.1:g.11796C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.174C>A MANE Select	ENSP00000349687.3:p.Ile58=
ENST00000357164.3:c.174C>A	ENSP00000349687.3:p.Ile58=
ENST00000523004.1:c.49C>A
ENST00000523466.5:c.219C>A	ENSP00000429100.1:p.Ile73=
NM_000405.4:c.174C>A	NP_000396.2:p.Ile58=
NM_001167607.1:c.174C>A	NP_001161079.1:p.Ile58=
NM_000405.5:c.174C>A MANE Select	NP_000396.2:p.Ile58=
NM_001167607.2:c.174C>A	NP_001161079.1:p.Ile58=
NM_001167607.3:c.174C>A	NP_001161079.1:p.Ile58=