Canonical Allele Identifier: CA366345810

Gene: SLC22A3

Linked Data

• dbSNP Id: rs1562500943
• gnomAD v4: 6-160437020-A-C
• MyVariant Identifiers: chr6:g.160858052A>C (hg19) ; chr6:g.160437020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437020A>C , CM000668.2:g.160437020A>C	GRCh38
NC_000006.11:g.160858052A>C , CM000668.1:g.160858052A>C	GRCh37
NC_000006.10:g.160778042A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1097A>C MANE Select	ENSP00000275300.2:p.Gln366Pro
ENST00000275300.2:c.1097A>C	ENSP00000275300.2:p.Gln366Pro
NM_021977.3:c.1097A>C	NP_068812.1:p.Gln366Pro
XM_005267106.3:c.704A>C	XP_005267163.1:p.Gln235Pro
XM_011536075.1:c.641A>C	XP_011534377.1:p.Gln214Pro
XM_011536076.1:c.641A>C	XP_011534378.1:p.Gln214Pro
XM_011536077.1:c.641A>C	XP_011534379.1:p.Gln214Pro
XR_245546.1:n.1018-5741A>C
XM_005267106.5:c.704A>C	XP_005267163.1:p.Gln235Pro
XM_011536075.2:c.641A>C	XP_011534377.1:p.Gln214Pro
XM_011536076.3:c.641A>C	XP_011534378.1:p.Gln214Pro
XM_017011203.2:c.641A>C	XP_016866692.1:p.Gln214Pro
XR_001743588.1:n.1041A>C
XR_001743589.1:n.1018-5741A>C
NM_021977.4:c.1097A>C MANE Select	NP_068812.1:p.Gln366Pro