Canonical Allele Identifier: CA361806047

Gene: GM2A

Linked Data

• dbSNP Id: rs1425289686
• gnomAD v3: 5-151259909-C-A
• gnomAD v4: 5-151259909-C-A
• MyVariant Identifiers: chr5:g.150639470C>A (hg19) ; chr5:g.151259909C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259909C>A , CM000667.2:g.151259909C>A	GRCh38
NC_000005.9:g.150639470C>A , CM000667.1:g.150639470C>A	GRCh37
NC_000005.8:g.150619663C>A	NCBI36
NG_009059.1:g.11858C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.236C>A MANE Select	ENSP00000349687.3:p.Pro79His
ENST00000357164.3:c.236C>A	ENSP00000349687.3:p.Pro79His
ENST00000523004.1:c.111C>A
ENST00000523466.5:c.281C>A	ENSP00000429100.1:p.Pro94His
NM_000405.4:c.236C>A	NP_000396.2:p.Pro79His
NM_001167607.1:c.236C>A	NP_001161079.1:p.Pro79His
NM_000405.5:c.236C>A MANE Select	NP_000396.2:p.Pro79His
NM_001167607.2:c.236C>A	NP_001161079.1:p.Pro79His
NM_001167607.3:c.236C>A	NP_001161079.1:p.Pro79His