Canonical Allele Identifier: CA1591312140

Gene: GM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259915A= , CM000667.2:g.151259915A=	GRCh38
NC_000005.9:g.150639476A= , CM000667.1:g.150639476A=	GRCh37
NC_000005.8:g.150619669A=	NCBI36
NG_009059.1:g.11864A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.242A= MANE Select	ENSP00000349687.3:p.Lys81=
ENST00000357164.3:c.242A=	ENSP00000349687.3:p.Lys81=
ENST00000523004.1:c.117A=
ENST00000523466.5:c.287A=	ENSP00000429100.1:p.Lys96=
NM_000405.4:c.242A=	NP_000396.2:p.Lys81=
NM_001167607.1:c.242A=	NP_001161079.1:p.Lys81=
NM_000405.5:c.242A= MANE Select	NP_000396.2:p.Lys81=
NM_001167607.2:c.242A=	NP_001161079.1:p.Lys81=
NM_001167607.3:c.242A=	NP_001161079.1:p.Lys81=