Canonical Allele Identifier: CA693187774

Gene: M6PR

Linked Data

• dbSNP Id: rs1490022624
• gnomAD v4: 12-8945346-C-T
• MyVariant Identifiers: chr12:g.9097942C>T (hg19) ; chr12:g.8945346C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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