Canonical Allele Identifier: CA3517881

Gene: GM2A

Linked Data

• dbSNP Id: rs755382727
• ExAC: 5:150639406 A / G
• gnomAD v2: 5-150639406-A-G
• gnomAD v4: 5-151259845-A-G
• MyVariant Identifiers: chr5:g.150639406A>G (hg19) ; chr5:g.151259845A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259845A>G , CM000667.2:g.151259845A>G	GRCh38
NC_000005.9:g.150639406A>G , CM000667.1:g.150639406A>G	GRCh37
NC_000005.8:g.150619599A>G	NCBI36
NG_009059.1:g.11794A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357164.4:c.172A>G MANE Select	ENSP00000349687.3:p.Ile58Val
ENST00000357164.3:c.172A>G	ENSP00000349687.3:p.Ile58Val
ENST00000523004.1:c.47A>G
ENST00000523466.5:c.217A>G	ENSP00000429100.1:p.Ile73Val
NM_000405.4:c.172A>G	NP_000396.2:p.Ile58Val
NM_001167607.1:c.172A>G	NP_001161079.1:p.Ile58Val
NM_000405.5:c.172A>G MANE Select	NP_000396.2:p.Ile58Val
NM_001167607.2:c.172A>G	NP_001161079.1:p.Ile58Val
NM_001167607.3:c.172A>G	NP_001161079.1:p.Ile58Val