Canonical Allele Identifier: CA151188579

Gene: SLC22A3

Linked Data

• dbSNP Id: rs556600959
• gnomAD v2: 6-160834767-T-C
• gnomAD v3: 6-160413735-T-C
• gnomAD v4: 6-160413735-T-C
• MyVariant Identifiers: chr6:g.160834767T>C (hg19) ; chr6:g.160413735T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160413735T>C , CM000668.2:g.160413735T>C	GRCh38
NC_000006.11:g.160834767T>C , CM000668.1:g.160834767T>C	GRCh37
NC_000006.10:g.160754757T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.975+2889T>C MANE Select	ENSP00000275300.2:n.975+2889T>C
ENST00000275300.2:c.975+2889T>C	ENSP00000275300.2:n.975+2889T>C
NM_021977.3:c.975+2889T>C	NP_068812.1:n.975+2889T>C
XM_005267106.3:c.582+2889T>C	XP_005267163.1:n.582+2889T>C
XM_005267107.2:c.975+2889T>C	XP_005267164.1:n.975+2889T>C
XM_011536075.1:c.519+2889T>C	XP_011534377.1:n.519+2889T>C
XM_011536076.1:c.519+2889T>C	XP_011534378.1:n.519+2889T>C
XM_011536077.1:c.519+2889T>C	XP_011534379.1:n.519+2889T>C
XM_011536078.1:c.975+2889T>C	XP_011534380.1:n.975+2889T>C
XR_245546.1:n.1017+2889T>C
XM_005267106.5:c.582+2889T>C	XP_005267163.1:n.582+2889T>C
XM_005267107.3:c.975+2889T>C	XP_005267164.1:n.975+2889T>C
XM_011536075.2:c.519+2889T>C	XP_011534377.1:n.519+2889T>C
XM_011536076.3:c.519+2889T>C	XP_011534378.1:n.519+2889T>C
XM_017011203.2:c.519+2889T>C	XP_016866692.1:n.519+2889T>C
XR_001743588.1:n.1017+2889T>C
XR_001743589.1:n.1017+2889T>C
NM_021977.4:c.975+2889T>C MANE Select	NP_068812.1:n.975+2889T>C