Canonical Allele Identifier: CA16285746
Gene: SLC22A3 HGNC NCBI
COSMIC:
COSN14770234 (not active)
MyVariant.info:
GRCh38 chr6:g.160403722C>T
GRCh37 chr6:g.160824754C>T
gnomAD v2:
6:160824754 C / T
gnomAD v3:
6:160403722 C / T
gnomAD v4:
chr6-160403722-C-T
Joint Max Group AF 0.97569418 (EAS)
Genomes Max Group AF 0.97569418 (EAS)
dbSNP:
2504938
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160403722C>T , CM000668.2:g.160403722C>T GRCh38
NC_000006.11:g.160824754C>T , CM000668.1:g.160824754C>T GRCh37
NC_000006.10:g.160744744C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.534-3319C>T MANE Select ENSP00000275300.2:n.534-3319C>T
ENST00000275300.2:c.534-3319C>T ENSP00000275300.2:n.534-3319C>T
NM_021977.3:c.534-3319C>T NP_068812.1:n.534-3319C>T
XM_005267106.3:c.141-3319C>T XP_005267163.1:n.141-3319C>T
XM_005267107.2:c.534-3319C>T XP_005267164.1:n.534-3319C>T
XM_011536075.1:c.78-3319C>T XP_011534377.1:n.78-3319C>T
XM_011536076.1:c.78-3319C>T XP_011534378.1:n.78-3319C>T
XM_011536077.1:c.78-3319C>T XP_011534379.1:n.78-3319C>T
XM_011536078.1:c.534-3319C>T XP_011534380.1:n.534-3319C>T
XR_245546.1:n.576-3319C>T
XM_005267106.5:c.141-3319C>T XP_005267163.1:n.141-3319C>T
XM_005267107.3:c.534-3319C>T XP_005267164.1:n.534-3319C>T
XM_011536075.2:c.78-3319C>T XP_011534377.1:n.78-3319C>T
XM_011536076.3:c.78-3319C>T XP_011534378.1:n.78-3319C>T
XM_017011203.2:c.78-3319C>T XP_016866692.1:n.78-3319C>T
XR_001743588.1:n.576-3319C>T
XR_001743589.1:n.576-3319C>T
NM_021977.4:c.534-3319C>T MANE Select NP_068812.1:n.534-3319C>T
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