Canonical Allele Identifier: CA1591312072

Gene: GM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259765T= , CM000667.2:g.151259765T=	GRCh38
NC_000005.9:g.150639326T= , CM000667.1:g.150639326T=	GRCh37
NC_000005.8:g.150619519T=	NCBI36
NG_009059.1:g.11714T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.92T= MANE Select	ENSP00000349687.3:p.Leu31=
ENST00000357164.3:c.92T=	ENSP00000349687.3:p.Leu31=
ENST00000523466.5:c.137T=	ENSP00000429100.1:p.Leu46=
NM_000405.4:c.92T=	NP_000396.2:p.Leu31=
NM_001167607.1:c.92T=	NP_001161079.1:p.Leu31=
NM_000405.5:c.92T= MANE Select	NP_000396.2:p.Leu31=
NM_001167607.2:c.92T=	NP_001161079.1:p.Leu31=
NM_001167607.3:c.92T=	NP_001161079.1:p.Leu31=