Canonical Allele Identifier: CA12216365
Gene: SLC22A3 HGNC NCBI
COSMIC:
COSN14783461 (not active)
MyVariant.info:
GRCh38 chr6:g.160442500T>C
GRCh37 chr6:g.160863532T>C
gnomAD v2:
6:160863532 T / C
gnomAD v3:
6:160442500 T / C
gnomAD v4:
chr6-160442500-T-C
Joint Max Group AF 0.44936026 (EAS)
Genomes Max Group AF 0.44936026 (EAS)
dbSNP:
2048327
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160442500T>C , CM000668.2:g.160442500T>C GRCh38
NC_000006.11:g.160863532T>C , CM000668.1:g.160863532T>C GRCh37
NC_000006.10:g.160783522T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.1289-261T>C MANE Select ENSP00000275300.2:n.1289-261T>C
ENST00000275300.2:c.1289-261T>C ENSP00000275300.2:n.1289-261T>C
NM_021977.3:c.1289-261T>C NP_068812.1:n.1289-261T>C
XM_005267106.3:c.896-261T>C XP_005267163.1:n.896-261T>C
XM_011536075.1:c.833-261T>C XP_011534377.1:n.833-261T>C
XM_011536076.1:c.833-261T>C XP_011534378.1:n.833-261T>C
XM_011536077.1:c.833-261T>C XP_011534379.1:n.833-261T>C
XR_245546.1:n.1018-261T>C
XM_005267106.5:c.896-261T>C XP_005267163.1:n.896-261T>C
XM_011536075.2:c.833-261T>C XP_011534377.1:n.833-261T>C
XM_011536076.3:c.833-261T>C XP_011534378.1:n.833-261T>C
XM_017011203.2:c.833-261T>C XP_016866692.1:n.833-261T>C
XR_001743588.1:n.1233-261T>C
XR_001743589.1:n.1018-261T>C
NM_021977.4:c.1289-261T>C MANE Select NP_068812.1:n.1289-261T>C
Search 100 bp 5'
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