Canonical Allele Identifier: CA2617524722

Gene: M6PR

Linked Data

• gnomAD v4: 12-8945225-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8945225C>A , CM000674.2:g.8945225C>A	GRCh38
NC_000012.11:g.9097821C>A , CM000674.1:g.9097821C>A	GRCh37
NC_000012.10:g.8989088C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000000412.8:c.343+193G>T MANE Select	ENSP00000000412.3:n.343+193G>T
ENST00000000412.7:c.343+193G>T	ENSP00000000412.3:n.343+193G>T
ENST00000536844.5:c.343+193G>T	ENSP00000440488.2:n.343+193G>T
ENST00000541507.5:c.343+193G>T	ENSP00000442100.1:n.343+193G>T
ENST00000543258.1:c.179+193G>T
ENST00000543704.5:c.66+1078G>T	ENSP00000437595.1:n.66+1078G>T
ENST00000543834.1:n.62+193G>T
ENST00000544245.1:c.-12+193G>T	ENSP00000439968.1:n.-12+193G>T
NM_001207024.1:c.343+193G>T	NP_001193953.1:n.343+193G>T
NM_002355.3:c.343+193G>T	NP_002346.1:n.343+193G>T
XM_005253376.1:c.343+193G>T	XP_005253433.1:n.343+193G>T
XM_011520672.1:c.343+193G>T	XP_011518974.1:n.343+193G>T
XM_005253376.2:c.343+193G>T	XP_005253433.1:n.343+193G>T
NM_002355.4:c.343+193G>T MANE Select	NP_002346.1:n.343+193G>T
NM_001207024.2:c.343+193G>T	NP_001193953.1:n.343+193G>T