Canonical Allele Identifier: CA447179927

Gene: GM2A

Linked Data

• gnomAD v4: 5-151259889-C-T
• MyVariant Identifiers: chr5:g.150639450C>T (hg19)

Genomic Alleles

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

Transcript Alleles

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