Canonical Allele Identifier: CA1591312101

Gene: GM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259843C= , CM000667.2:g.151259843C=	GRCh38
NC_000005.9:g.150639404C= , CM000667.1:g.150639404C=	GRCh37
NC_000005.8:g.150619597C=	NCBI36
NG_009059.1:g.11792C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000357164.4:c.170C= MANE Select	ENSP00000349687.3:p.Pro57=
ENST00000357164.3:c.170C=	ENSP00000349687.3:p.Pro57=
ENST00000523004.1:c.45C=
ENST00000523466.5:c.215C=	ENSP00000429100.1:p.Pro72=
NM_000405.4:c.170C=	NP_000396.2:p.Pro57=
NM_001167607.1:c.170C=	NP_001161079.1:p.Pro57=
NM_000405.5:c.170C= MANE Select	NP_000396.2:p.Pro57=
NM_001167607.2:c.170C=	NP_001161079.1:p.Pro57=
NM_001167607.3:c.170C=	NP_001161079.1:p.Pro57=