Canonical Allele Identifier: CA12216371
Gene: SLC22A3 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.160451620G>A
GRCh37 chr6:g.160872652G>A
gnomAD v2:
6:160872652 G / A
gnomAD v3:
6:160451620 G / A
gnomAD v4:
chr6-160451620-G-A
Joint Max Group AF 0.44413216 (EAS)
Genomes Max Group AF 0.44640658 (EAS)
Exomes Max Group AF 0.41092499 (AMR)
dbSNP:
3088442
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160451620G>A , CM000668.2:g.160451620G>A GRCh38
NC_000006.11:g.160872652G>A , CM000668.1:g.160872652G>A GRCh37
NC_000006.10:g.160792642G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.*564G>A MANE Select ENSP00000275300.2:n.*564G>A
ENST00000275300.2:c.*564G>A ENSP00000275300.2:n.*564G>A
NM_021977.3:c.*564G>A NP_068812.1:n.*564G>A
XM_005267106.3:c.*564G>A XP_005267163.1:n.*564G>A
XM_011536075.1:c.*564G>A XP_011534377.1:n.*564G>A
XM_011536076.1:c.*564G>A XP_011534378.1:n.*564G>A
XM_011536077.1:c.*564G>A XP_011534379.1:n.*564G>A
XM_005267106.5:c.*564G>A XP_005267163.1:n.*564G>A
XM_011536075.2:c.*564G>A XP_011534377.1:n.*564G>A
XM_011536076.3:c.*564G>A XP_011534378.1:n.*564G>A
XM_017011203.2:c.*564G>A XP_016866692.1:n.*564G>A
XR_001743588.1:n.2179G>A
XR_001743589.1:n.1964G>A
NM_021977.4:c.*564G>A MANE Select NP_068812.1:n.*564G>A
Search 100 bp 5'
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