Canonical Allele Identifier: CA366346125

Gene: SLC22A3

Linked Data

• MyVariant Identifiers: chr6:g.160858210G>C (hg19) ; chr6:g.160437178G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437178G>C , CM000668.2:g.160437178G>C	GRCh38
NC_000006.11:g.160858210G>C , CM000668.1:g.160858210G>C	GRCh37
NC_000006.10:g.160778200G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1255G>C MANE Select	ENSP00000275300.2:p.Val419Leu
ENST00000275300.2:c.1255G>C	ENSP00000275300.2:p.Val419Leu
NM_021977.3:c.1255G>C	NP_068812.1:p.Val419Leu
XM_005267106.3:c.862G>C	XP_005267163.1:p.Val288Leu
XM_011536075.1:c.799G>C	XP_011534377.1:p.Val267Leu
XM_011536076.1:c.799G>C	XP_011534378.1:p.Val267Leu
XM_011536077.1:c.799G>C	XP_011534379.1:p.Val267Leu
XR_245546.1:n.1018-5583G>C
XM_005267106.5:c.862G>C	XP_005267163.1:p.Val288Leu
XM_011536075.2:c.799G>C	XP_011534377.1:p.Val267Leu
XM_011536076.3:c.799G>C	XP_011534378.1:p.Val267Leu
XM_017011203.2:c.799G>C	XP_016866692.1:p.Val267Leu
XR_001743588.1:n.1199G>C
XR_001743589.1:n.1018-5583G>C
NM_021977.4:c.1255G>C MANE Select	NP_068812.1:p.Val419Leu