Canonical Allele Identifier: CA1591312108

Gene: GM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259851G= , CM000667.2:g.151259851G=	GRCh38
NC_000005.9:g.150639412G= , CM000667.1:g.150639412G=	GRCh37
NC_000005.8:g.150619605G=	NCBI36
NG_009059.1:g.11800G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.178G= MANE Select	ENSP00000349687.3:p.Val60=
ENST00000357164.3:c.178G=	ENSP00000349687.3:p.Val60=
ENST00000523004.1:c.53G=
ENST00000523466.5:c.223G=	ENSP00000429100.1:p.Val75=
NM_000405.4:c.178G=	NP_000396.2:p.Val60=
NM_001167607.1:c.178G=	NP_001161079.1:p.Val60=
NM_000405.5:c.178G= MANE Select	NP_000396.2:p.Val60=
NM_001167607.2:c.178G=	NP_001161079.1:p.Val60=
NM_001167607.3:c.178G=	NP_001161079.1:p.Val60=