Canonical Allele Identifier: CA2535894390

Gene: M6PR

Linked Data

• gnomAD v4: 12-8945346-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8945346C>A , CM000674.2:g.8945346C>A	GRCh38
NC_000012.11:g.9097942C>A , CM000674.1:g.9097942C>A	GRCh37
NC_000012.10:g.8989209C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000000412.8:c.343+72G>T MANE Select	ENSP00000000412.3:n.343+72G>T
ENST00000000412.7:c.343+72G>T	ENSP00000000412.3:n.343+72G>T
ENST00000536844.5:c.343+72G>T	ENSP00000440488.2:n.343+72G>T
ENST00000540837.1:n.539G>T
ENST00000541507.5:c.343+72G>T	ENSP00000442100.1:n.343+72G>T
ENST00000543258.1:c.179+72G>T
ENST00000543704.5:c.66+957G>T	ENSP00000437595.1:n.66+957G>T
ENST00000543834.1:n.62+72G>T
ENST00000544245.1:c.-12+72G>T	ENSP00000439968.1:n.-12+72G>T
NM_001207024.1:c.343+72G>T	NP_001193953.1:n.343+72G>T
NM_002355.3:c.343+72G>T	NP_002346.1:n.343+72G>T
XM_005253376.1:c.343+72G>T	XP_005253433.1:n.343+72G>T
XM_011520672.1:c.343+72G>T	XP_011518974.1:n.343+72G>T
XM_005253376.2:c.343+72G>T	XP_005253433.1:n.343+72G>T
NM_002355.4:c.343+72G>T MANE Select	NP_002346.1:n.343+72G>T
NM_001207024.2:c.343+72G>T	NP_001193953.1:n.343+72G>T