Canonical Allele Identifier: CA447179924

Gene: GM2A

Linked Data

• MyVariant Identifiers: chr5:g.150639450C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259889C>A , CM000667.2:g.151259889C>A	GRCh38
NC_000005.9:g.150639450C>A , CM000667.1:g.150639450C>A	GRCh37
NC_000005.8:g.150619643C>A	NCBI36
NG_009059.1:g.11838C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.216C>A MANE Select	ENSP00000349687.3:p.Thr72=
ENST00000357164.3:c.216C>A	ENSP00000349687.3:p.Thr72=
ENST00000523004.1:c.91C>A
ENST00000523466.5:c.261C>A	ENSP00000429100.1:p.Thr87=
NM_000405.4:c.216C>A	NP_000396.2:p.Thr72=
NM_001167607.1:c.216C>A	NP_001161079.1:p.Thr72=
NM_000405.5:c.216C>A MANE Select	NP_000396.2:p.Thr72=
NM_001167607.2:c.216C>A	NP_001161079.1:p.Thr72=
NM_001167607.3:c.216C>A	NP_001161079.1:p.Thr72=