Canonical Allele Identifier: CA447179968

Gene: GM2A

Linked Data

• dbSNP Id: rs1753764610
• MyVariant Identifiers: chr5:g.150639477G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259916G>A , CM000667.2:g.151259916G>A	GRCh38
NC_000005.9:g.150639477G>A , CM000667.1:g.150639477G>A	GRCh37
NC_000005.8:g.150619670G>A	NCBI36
NG_009059.1:g.11865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.243G>A MANE Select	ENSP00000349687.3:p.Lys81=
ENST00000357164.3:c.243G>A	ENSP00000349687.3:p.Lys81=
ENST00000523004.1:c.118G>A
ENST00000523466.5:c.288G>A	ENSP00000429100.1:p.Lys96=
NM_000405.4:c.243G>A	NP_000396.2:p.Lys81=
NM_001167607.1:c.243G>A	NP_001161079.1:p.Lys81=
NM_000405.5:c.243G>A MANE Select	NP_000396.2:p.Lys81=
NM_001167607.2:c.243G>A	NP_001161079.1:p.Lys81=
NM_001167607.3:c.243G>A	NP_001161079.1:p.Lys81=