Canonical Allele Identifier: CA361806003

Gene: GM2A

Linked Data

• dbSNP Id: rs1237590287
• MyVariant Identifiers: chr5:g.150639448A>T (hg19) ; chr5:g.151259887A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259887A>T , CM000667.2:g.151259887A>T	GRCh38
NC_000005.9:g.150639448A>T , CM000667.1:g.150639448A>T	GRCh37
NC_000005.8:g.150619641A>T	NCBI36
NG_009059.1:g.11836A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.214A>T MANE Select	ENSP00000349687.3:p.Thr72Ser
ENST00000357164.3:c.214A>T	ENSP00000349687.3:p.Thr72Ser
ENST00000523004.1:c.89A>T
ENST00000523466.5:c.259A>T	ENSP00000429100.1:p.Thr87Ser
NM_000405.4:c.214A>T	NP_000396.2:p.Thr72Ser
NM_001167607.1:c.214A>T	NP_001161079.1:p.Thr72Ser
NM_000405.5:c.214A>T MANE Select	NP_000396.2:p.Thr72Ser
NM_001167607.2:c.214A>T	NP_001161079.1:p.Thr72Ser
NM_001167607.3:c.214A>T	NP_001161079.1:p.Thr72Ser