Canonical Allele Identifier: CA361806030

Gene: GM2A

Linked Data

• MyVariant Identifiers: chr5:g.150639461T>G (hg19) ; chr5:g.151259900T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259900T>G , CM000667.2:g.151259900T>G	GRCh38
NC_000005.9:g.150639461T>G , CM000667.1:g.150639461T>G	GRCh37
NC_000005.8:g.150619654T>G	NCBI36
NG_009059.1:g.11849T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.227T>G MANE Select	ENSP00000349687.3:p.Leu76Arg
ENST00000357164.3:c.227T>G	ENSP00000349687.3:p.Leu76Arg
ENST00000523004.1:c.102T>G
ENST00000523466.5:c.272T>G	ENSP00000429100.1:p.Leu91Arg
NM_000405.4:c.227T>G	NP_000396.2:p.Leu76Arg
NM_001167607.1:c.227T>G	NP_001161079.1:p.Leu76Arg
NM_000405.5:c.227T>G MANE Select	NP_000396.2:p.Leu76Arg
NM_001167607.2:c.227T>G	NP_001161079.1:p.Leu76Arg
NM_001167607.3:c.227T>G	NP_001161079.1:p.Leu76Arg