Canonical Allele Identifier: CA366343108

Gene: SLC22A3

Linked Data

• ClinVar Variation Id: 2272690
• ClinVar RCV Id: RCV004128099
• gnomAD v4: 6-160407159-T-A
• MyVariant Identifiers: chr6:g.160828191T>A (hg19) ; chr6:g.160407159T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160407159T>A , CM000668.2:g.160407159T>A	GRCh38
NC_000006.11:g.160828191T>A , CM000668.1:g.160828191T>A	GRCh37
NC_000006.10:g.160748181T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.652T>A MANE Select	ENSP00000275300.2:p.Phe218Ile
ENST00000275300.2:c.652T>A	ENSP00000275300.2:p.Phe218Ile
NM_021977.3:c.652T>A	NP_068812.1:p.Phe218Ile
XM_005267106.3:c.259T>A	XP_005267163.1:p.Phe87Ile
XM_005267107.2:c.652T>A	XP_005267164.1:p.Phe218Ile
XM_011536075.1:c.196T>A	XP_011534377.1:p.Phe66Ile
XM_011536076.1:c.196T>A	XP_011534378.1:p.Phe66Ile
XM_011536077.1:c.196T>A	XP_011534379.1:p.Phe66Ile
XM_011536078.1:c.652T>A	XP_011534380.1:p.Phe218Ile
XR_245546.1:n.694T>A
XM_005267106.5:c.259T>A	XP_005267163.1:p.Phe87Ile
XM_005267107.3:c.652T>A	XP_005267164.1:p.Phe218Ile
XM_011536075.2:c.196T>A	XP_011534377.1:p.Phe66Ile
XM_011536076.3:c.196T>A	XP_011534378.1:p.Phe66Ile
XM_017011203.2:c.196T>A	XP_016866692.1:p.Phe66Ile
XR_001743588.1:n.694T>A
XR_001743589.1:n.694T>A
NM_021977.4:c.652T>A MANE Select	NP_068812.1:p.Phe218Ile