Canonical Allele Identifier: CA129894989

Gene: GM2A

Linked Data

• dbSNP Id: rs761513426
• gnomAD v4: 5-151259852-T-A
• MyVariant Identifiers: chr5:g.150639413T>A (hg19) ; chr5:g.151259852T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259852T>A , CM000667.2:g.151259852T>A	GRCh38
NC_000005.9:g.150639413T>A , CM000667.1:g.150639413T>A	GRCh37
NC_000005.8:g.150619606T>A	NCBI36
NG_009059.1:g.11801T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.179T>A MANE Select	ENSP00000349687.3:p.Val60Asp
ENST00000357164.3:c.179T>A	ENSP00000349687.3:p.Val60Asp
ENST00000523004.1:c.54T>A
ENST00000523466.5:c.224T>A	ENSP00000429100.1:p.Val75Asp
NM_000405.4:c.179T>A	NP_000396.2:p.Val60Asp
NM_001167607.1:c.179T>A	NP_001161079.1:p.Val60Asp
NM_000405.5:c.179T>A MANE Select	NP_000396.2:p.Val60Asp
NM_001167607.2:c.179T>A	NP_001161079.1:p.Val60Asp
NM_001167607.3:c.179T>A	NP_001161079.1:p.Val60Asp