Canonical Allele Identifier: CA3517883

Gene: GM2A

Linked Data

• dbSNP Id: rs752989938
• ExAC: 5:150639408 C / T
• gnomAD v2: 5-150639408-C-T
• gnomAD v3: 5-151259847-C-T
• gnomAD v4: 5-151259847-C-T
• MyVariant Identifiers: chr5:g.150639408C>T (hg19) ; chr5:g.151259847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259847C>T , CM000667.2:g.151259847C>T	GRCh38
NC_000005.9:g.150639408C>T , CM000667.1:g.150639408C>T	GRCh37
NC_000005.8:g.150619601C>T	NCBI36
NG_009059.1:g.11796C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.174C>T MANE Select	ENSP00000349687.3:p.Ile58=
ENST00000357164.3:c.174C>T	ENSP00000349687.3:p.Ile58=
ENST00000523004.1:c.49C>T
ENST00000523466.5:c.219C>T	ENSP00000429100.1:p.Ile73=
NM_000405.4:c.174C>T	NP_000396.2:p.Ile58=
NM_001167607.1:c.174C>T	NP_001161079.1:p.Ile58=
NM_000405.5:c.174C>T MANE Select	NP_000396.2:p.Ile58=
NM_001167607.2:c.174C>T	NP_001161079.1:p.Ile58=
NM_001167607.3:c.174C>T	NP_001161079.1:p.Ile58=