Canonical Allele Identifier: CA2015276278

Gene: M6PR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8945230G= , CM000674.2:g.8945230G=	GRCh38
NC_000012.11:g.9097826G= , CM000674.1:g.9097826G=	GRCh37
NC_000012.10:g.8989093G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000000412.8:c.343+188C= MANE Select	ENSP00000000412.3:n.343+188C=
ENST00000000412.7:c.343+188C=	ENSP00000000412.3:n.343+188C=
ENST00000536844.5:c.343+188C=	ENSP00000440488.2:n.343+188C=
ENST00000541507.5:c.343+188C=	ENSP00000442100.1:n.343+188C=
ENST00000543258.1:c.179+188C=
ENST00000543704.5:c.66+1073C=	ENSP00000437595.1:n.66+1073C=
ENST00000543834.1:n.62+188C=
ENST00000544245.1:c.-12+188C=	ENSP00000439968.1:n.-12+188C=
NM_001207024.1:c.343+188C=	NP_001193953.1:n.343+188C=
NM_002355.3:c.343+188C=	NP_002346.1:n.343+188C=
XM_005253376.1:c.343+188C=	XP_005253433.1:n.343+188C=
XM_011520672.1:c.343+188C=	XP_011518974.1:n.343+188C=
XM_005253376.2:c.343+188C=	XP_005253433.1:n.343+188C=
NM_002355.4:c.343+188C= MANE Select	NP_002346.1:n.343+188C=
NM_001207024.2:c.343+188C=	NP_001193953.1:n.343+188C=