Canonical Allele Identifier: CA366345793

Gene: SLC22A3

Linked Data

• dbSNP Id: rs1445619399
• gnomAD v2: 6-160858045-G-A
• MyVariant Identifiers: chr6:g.160858045G>A (hg19) ; chr6:g.160437013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437013G>A , CM000668.2:g.160437013G>A	GRCh38
NC_000006.11:g.160858045G>A , CM000668.1:g.160858045G>A	GRCh37
NC_000006.10:g.160778035G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1090G>A MANE Select	ENSP00000275300.2:p.Val364Met
ENST00000275300.2:c.1090G>A	ENSP00000275300.2:p.Val364Met
NM_021977.3:c.1090G>A	NP_068812.1:p.Val364Met
XM_005267106.3:c.697G>A	XP_005267163.1:p.Val233Met
XM_011536075.1:c.634G>A	XP_011534377.1:p.Val212Met
XM_011536076.1:c.634G>A	XP_011534378.1:p.Val212Met
XM_011536077.1:c.634G>A	XP_011534379.1:p.Val212Met
XR_245546.1:n.1018-5748G>A
XM_005267106.5:c.697G>A	XP_005267163.1:p.Val233Met
XM_011536075.2:c.634G>A	XP_011534377.1:p.Val212Met
XM_011536076.3:c.634G>A	XP_011534378.1:p.Val212Met
XM_017011203.2:c.634G>A	XP_016866692.1:p.Val212Met
XR_001743588.1:n.1034G>A
XR_001743589.1:n.1018-5748G>A
NM_021977.4:c.1090G>A MANE Select	NP_068812.1:p.Val364Met