Canonical Allele Identifier: CA2617524602

Gene: M6PR

Linked Data

• gnomAD v4: 12-8945147-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8945147G>C , CM000674.2:g.8945147G>C	GRCh38
NC_000012.11:g.9097743G>C , CM000674.1:g.9097743G>C	GRCh37
NC_000012.10:g.8989010G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000000412.8:c.343+271C>G MANE Select	ENSP00000000412.3:n.343+271C>G
ENST00000000412.7:c.343+271C>G	ENSP00000000412.3:n.343+271C>G
ENST00000536844.5:c.343+271C>G	ENSP00000440488.2:n.343+271C>G
ENST00000541507.5:c.343+271C>G	ENSP00000442100.1:n.343+271C>G
ENST00000543258.1:c.179+271C>G
ENST00000543704.5:c.66+1156C>G	ENSP00000437595.1:n.66+1156C>G
ENST00000543834.1:n.62+271C>G
ENST00000544245.1:c.-12+271C>G	ENSP00000439968.1:n.-12+271C>G
NM_001207024.1:c.343+271C>G	NP_001193953.1:n.343+271C>G
NM_002355.3:c.343+271C>G	NP_002346.1:n.343+271C>G
XM_005253376.1:c.343+271C>G	XP_005253433.1:n.343+271C>G
XM_011520672.1:c.343+271C>G	XP_011518974.1:n.343+271C>G
XM_005253376.2:c.343+271C>G	XP_005253433.1:n.343+271C>G
NM_002355.4:c.343+271C>G MANE Select	NP_002346.1:n.343+271C>G
NM_001207024.2:c.343+271C>G	NP_001193953.1:n.343+271C>G