Canonical Allele Identifier: CA318339
Gene: SLC25A22 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.792726G>A , CM000673.2:g.792726G>A GRCh38
NC_000011.9:g.792726G>A , CM000673.1:g.792726G>A GRCh37
NC_000011.8:g.782726G>A NCBI36
NG_023407.1:g.10544C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000628067.3:c.414C>T MANE Select ENSP00000486058.1:p.Ala138=
ENST00000320230.9:c.414C>T ENSP00000322020.5:p.Ala138=
ENST00000481290.5:c.489C>T ENSP00000431829.2:p.Ala163=
ENST00000528606.5:c.414C>T ENSP00000437045.2:p.Ala138=
ENST00000529351.5:c.*200C>T ENSP00000432222.1:n.*200C>T
ENST00000531214.5:c.414C>T ENSP00000437236.1:p.Ala138=
ENST00000531437.5:c.402C>T ENSP00000435862.1:p.Ala134=
ENST00000531514.5:c.*200C>T ENSP00000433780.2:n.*200C>T
ENST00000531534.5:c.414C>T ENSP00000435402.2:p.Ala138=
ENST00000532484.5:c.414C>T ENSP00000431466.2:p.Ala138=
ENST00000533385.5:c.414C>T ENSP00000434287.2:p.Ala138=
ENST00000625419.2:c.414C>T ENSP00000485719.1:p.Ala138=
ENST00000627843.2:c.414C>T ENSP00000486512.1:p.Ala138=
ENST00000628067.2:c.414C>T ENSP00000486058.1:p.Ala138=
ENST00000630809.2:n.282C>T
NM_001191060.1:c.414C>T NP_001177989.1:p.Ala138=
NM_001191061.1:c.414C>T NP_001177990.1:p.Ala138=
NM_024698.5:c.414C>T NP_078974.1:p.Ala138=
XM_011520369.1:c.414C>T XP_011518671.1:p.Ala138=
XM_011520370.1:c.414C>T XP_011518672.1:p.Ala138=
XM_011520371.1:c.414C>T XP_011518673.1:p.Ala138=
XM_011520370.2:c.414C>T XP_011518672.1:p.Ala138=
XM_011520371.2:c.414C>T XP_011518673.1:p.Ala138=
XM_024448687.1:c.414C>T XP_024304455.1:p.Ala138=
XM_024448688.1:c.414C>T XP_024304456.1:p.Ala138=
XM_024448689.1:c.414C>T XP_024304457.1:p.Ala138=
NM_001191061.2:c.414C>T MANE Select NP_001177990.1:p.Ala138=
NM_024698.6:c.414C>T NP_078974.1:p.Ala138=
NM_001191060.2:c.414C>T NP_001177989.1:p.Ala138=