Canonical Allele Identifier: CA318345

Gene: SLC25A22

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.792640C>T , CM000673.2:g.792640C>T	GRCh38
NC_000011.9:g.792640C>T , CM000673.1:g.792640C>T	GRCh37
NC_000011.8:g.782640C>T	NCBI36
NG_023407.1:g.10630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628067.3:c.500G>A MANE Select	ENSP00000486058.1:p.Arg167Gln
ENST00000320230.9:c.500G>A	ENSP00000322020.5:p.Arg167Gln
ENST00000481290.5:c.575G>A	ENSP00000431829.2:p.Arg192Gln
ENST00000528606.5:c.500G>A	ENSP00000437045.2:p.Arg167Gln
ENST00000529351.5:c.*286G>A	ENSP00000432222.1:n.*286G>A
ENST00000531214.5:c.500G>A	ENSP00000437236.1:p.Arg167Gln
ENST00000531437.5:c.488G>A	ENSP00000435862.1:p.Arg163Gln
ENST00000532484.5:c.500G>A	ENSP00000431466.2:p.Arg167Gln
ENST00000625419.2:c.500G>A	ENSP00000485719.1:p.Arg167Gln
ENST00000627843.2:c.500G>A	ENSP00000486512.1:p.Arg167Gln
ENST00000628067.2:c.500G>A	ENSP00000486058.1:p.Arg167Gln
ENST00000630809.2:n.368G>A
NM_001191060.1:c.500G>A	NP_001177989.1:p.Arg167Gln
NM_001191061.1:c.500G>A	NP_001177990.1:p.Arg167Gln
NM_024698.5:c.500G>A	NP_078974.1:p.Arg167Gln
XM_011520369.1:c.500G>A	XP_011518671.1:p.Arg167Gln
XM_011520370.1:c.500G>A	XP_011518672.1:p.Arg167Gln
XM_011520371.1:c.500G>A	XP_011518673.1:p.Arg167Gln
XM_011520370.2:c.500G>A	XP_011518672.1:p.Arg167Gln
XM_011520371.2:c.500G>A	XP_011518673.1:p.Arg167Gln
XM_024448687.1:c.500G>A	XP_024304455.1:p.Arg167Gln
XM_024448688.1:c.500G>A	XP_024304456.1:p.Arg167Gln
XM_024448689.1:c.500G>A	XP_024304457.1:p.Arg167Gln
NM_001191061.2:c.500G>A MANE Select	NP_001177990.1:p.Arg167Gln
NM_024698.6:c.500G>A	NP_078974.1:p.Arg167Gln
NM_001191060.2:c.500G>A	NP_001177989.1:p.Arg167Gln