Canonical Allele Identifier: CA2015276236
Gene: M6PR HGNC NCBI

Linked Data

dbSNP Id: rs1946075902

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8945124C>T , CM000674.2:g.8945124C>T GRCh38
NC_000012.11:g.9097720C>T , CM000674.1:g.9097720C>T GRCh37
NC_000012.10:g.8988987C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000000412.8:c.343+294G>A MANE Select ENSP00000000412.3:n.343+294G>A
ENST00000000412.7:c.343+294G>A ENSP00000000412.3:n.343+294G>A
ENST00000536844.5:c.343+294G>A ENSP00000440488.2:n.343+294G>A
ENST00000541507.5:c.343+294G>A ENSP00000442100.1:n.343+294G>A
ENST00000543258.1:c.179+294G>A
ENST00000543704.5:c.66+1179G>A ENSP00000437595.1:n.66+1179G>A
ENST00000543834.1:n.62+294G>A
ENST00000544245.1:c.-12+294G>A ENSP00000439968.1:n.-12+294G>A
NM_001207024.1:c.343+294G>A NP_001193953.1:n.343+294G>A
NM_002355.3:c.343+294G>A NP_002346.1:n.343+294G>A
XM_005253376.1:c.343+294G>A XP_005253433.1:n.343+294G>A
XM_011520672.1:c.343+294G>A XP_011518974.1:n.343+294G>A
XM_005253376.2:c.343+294G>A XP_005253433.1:n.343+294G>A
NM_002355.4:c.343+294G>A MANE Select NP_002346.1:n.343+294G>A
NM_001207024.2:c.343+294G>A NP_001193953.1:n.343+294G>A