Canonical Allele Identifier: CA447179897

Gene: GM2A

Linked Data

• MyVariant Identifiers: chr5:g.150639426G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259865G>C , CM000667.2:g.151259865G>C	GRCh38
NC_000005.9:g.150639426G>C , CM000667.1:g.150639426G>C	GRCh37
NC_000005.8:g.150619619G>C	NCBI36
NG_009059.1:g.11814G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.192G>C MANE Select	ENSP00000349687.3:p.Val64=
ENST00000357164.3:c.192G>C	ENSP00000349687.3:p.Val64=
ENST00000523004.1:c.67G>C
ENST00000523466.5:c.237G>C	ENSP00000429100.1:p.Val79=
NM_000405.4:c.192G>C	NP_000396.2:p.Val64=
NM_001167607.1:c.192G>C	NP_001161079.1:p.Val64=
NM_000405.5:c.192G>C MANE Select	NP_000396.2:p.Val64=
NM_001167607.2:c.192G>C	NP_001161079.1:p.Val64=
NM_001167607.3:c.192G>C	NP_001161079.1:p.Val64=