Canonical Allele Identifier: CA944568157

Gene: M6PR

Linked Data

• dbSNP Id: rs1333145277
• gnomAD v3: 12-8945232-C-G
• gnomAD v4: 12-8945232-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8945232C>G , CM000674.2:g.8945232C>G	GRCh38
NC_000012.11:g.9097828C>G , CM000674.1:g.9097828C>G	GRCh37
NC_000012.10:g.8989095C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000000412.8:c.343+186G>C MANE Select	ENSP00000000412.3:n.343+186G>C
ENST00000000412.7:c.343+186G>C	ENSP00000000412.3:n.343+186G>C
ENST00000536844.5:c.343+186G>C	ENSP00000440488.2:n.343+186G>C
ENST00000541507.5:c.343+186G>C	ENSP00000442100.1:n.343+186G>C
ENST00000543258.1:c.179+186G>C
ENST00000543704.5:c.66+1071G>C	ENSP00000437595.1:n.66+1071G>C
ENST00000543834.1:n.62+186G>C
ENST00000544245.1:c.-12+186G>C	ENSP00000439968.1:n.-12+186G>C
NM_001207024.1:c.343+186G>C	NP_001193953.1:n.343+186G>C
NM_002355.3:c.343+186G>C	NP_002346.1:n.343+186G>C
XM_005253376.1:c.343+186G>C	XP_005253433.1:n.343+186G>C
XM_011520672.1:c.343+186G>C	XP_011518974.1:n.343+186G>C
XM_005253376.2:c.343+186G>C	XP_005253433.1:n.343+186G>C
NM_002355.4:c.343+186G>C MANE Select	NP_002346.1:n.343+186G>C
NM_001207024.2:c.343+186G>C	NP_001193953.1:n.343+186G>C