Canonical Allele Identifier: CA2840940760

Gene: SLC22A3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160419276G>A , CM000668.2:g.160419276G>A	GRCh38
NC_000006.11:g.160840308G>A , CM000668.1:g.160840308G>A	GRCh37
NC_000006.10:g.160760298G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.975+8430G>A MANE Select	ENSP00000275300.2:n.975+8430G>A
ENST00000275300.2:c.975+8430G>A	ENSP00000275300.2:n.975+8430G>A
NM_021977.3:c.975+8430G>A	NP_068812.1:n.975+8430G>A
XM_005267106.3:c.582+8430G>A	XP_005267163.1:n.582+8430G>A
XM_005267107.2:c.976-6575G>A	XP_005267164.1:n.976-6575G>A
XM_011536075.1:c.519+8430G>A	XP_011534377.1:n.519+8430G>A
XM_011536076.1:c.519+8430G>A	XP_011534378.1:n.519+8430G>A
XM_011536077.1:c.519+8430G>A	XP_011534379.1:n.519+8430G>A
XM_011536078.1:c.975+8430G>A	XP_011534380.1:n.975+8430G>A
XR_245546.1:n.1017+8430G>A
XM_005267106.5:c.582+8430G>A	XP_005267163.1:n.582+8430G>A
XM_005267107.3:c.976-6575G>A	XP_005267164.1:n.976-6575G>A
XM_011536075.2:c.519+8430G>A	XP_011534377.1:n.519+8430G>A
XM_011536076.3:c.519+8430G>A	XP_011534378.1:n.519+8430G>A
XM_017011203.2:c.519+8430G>A	XP_016866692.1:n.519+8430G>A
XR_001743588.1:n.1017+8430G>A
XR_001743589.1:n.1017+8430G>A
NM_021977.4:c.975+8430G>A MANE Select	NP_068812.1:n.975+8430G>A