Canonical Allele Identifier: CA129894996

Gene: GM2A

Linked Data

• ClinVar Variation Id: 1968113
• ClinVar RCV Id: RCV002727266
• dbSNP Id: rs893036133
• MyVariant Identifiers: chr5:g.150639437T>C (hg19) ; chr5:g.151259876T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259876T>C , CM000667.2:g.151259876T>C	GRCh38
NC_000005.9:g.150639437T>C , CM000667.1:g.150639437T>C	GRCh37
NC_000005.8:g.150619630T>C	NCBI36
NG_009059.1:g.11825T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.203T>C MANE Select	ENSP00000349687.3:p.Val68Ala
ENST00000357164.3:c.203T>C	ENSP00000349687.3:p.Val68Ala
ENST00000523004.1:c.78T>C
ENST00000523466.5:c.248T>C	ENSP00000429100.1:p.Val83Ala
NM_000405.4:c.203T>C	NP_000396.2:p.Val68Ala
NM_001167607.1:c.203T>C	NP_001161079.1:p.Val68Ala
NM_000405.5:c.203T>C MANE Select	NP_000396.2:p.Val68Ala
NM_001167607.2:c.203T>C	NP_001161079.1:p.Val68Ala
NM_001167607.3:c.203T>C	NP_001161079.1:p.Val68Ala