Canonical Allele Identifier: CA4085167
Gene: SLC22A3 HGNC NCBI
COSMIC:
COSM4408831 (not active)
MyVariant.info:
GRCh38 chr6:g.160437156G>A
GRCh37 chr6:g.160858188G>A
gnomAD v2:
6:160858188 G / A
gnomAD v3:
6:160437156 G / A
gnomAD v4:
chr6-160437156-G-A
Joint Max Group AF 0.48608772 (AMR)
Genomes Max Group AF 0.44678659 (EAS)
Exomes Max Group AF 0.50360796 (AMR)
ClinVar RCV:
RCV001676670
ClinVar Variation:
1264425
dbSNP:
2292334
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160437156G>A , CM000668.2:g.160437156G>A GRCh38
NC_000006.11:g.160858188G>A , CM000668.1:g.160858188G>A GRCh37
NC_000006.10:g.160778178G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.1233G>A MANE Select ENSP00000275300.2:p.Ala411=
ENST00000275300.2:c.1233G>A ENSP00000275300.2:p.Ala411=
NM_021977.3:c.1233G>A NP_068812.1:p.Ala411=
XM_005267106.3:c.840G>A XP_005267163.1:p.Ala280=
XM_011536075.1:c.777G>A XP_011534377.1:p.Ala259=
XM_011536076.1:c.777G>A XP_011534378.1:p.Ala259=
XM_011536077.1:c.777G>A XP_011534379.1:p.Ala259=
XR_245546.1:n.1018-5605G>A
XM_005267106.5:c.840G>A XP_005267163.1:p.Ala280=
XM_011536075.2:c.777G>A XP_011534377.1:p.Ala259=
XM_011536076.3:c.777G>A XP_011534378.1:p.Ala259=
XM_017011203.2:c.777G>A XP_016866692.1:p.Ala259=
XR_001743588.1:n.1177G>A
XR_001743589.1:n.1018-5605G>A
NM_021977.4:c.1233G>A MANE Select NP_068812.1:p.Ala411=
Search 100 bp 5'
Search 100 bp 3'