Canonical Allele Identifier: CA366346115

Gene: SLC22A3

Linked Data

• MyVariant Identifiers: chr6:g.160858204G>C (hg19) ; chr6:g.160437172G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437172G>C , CM000668.2:g.160437172G>C	GRCh38
NC_000006.11:g.160858204G>C , CM000668.1:g.160858204G>C	GRCh37
NC_000006.10:g.160778194G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1249G>C MANE Select	ENSP00000275300.2:p.Ala417Pro
ENST00000275300.2:c.1249G>C	ENSP00000275300.2:p.Ala417Pro
NM_021977.3:c.1249G>C	NP_068812.1:p.Ala417Pro
XM_005267106.3:c.856G>C	XP_005267163.1:p.Ala286Pro
XM_011536075.1:c.793G>C	XP_011534377.1:p.Ala265Pro
XM_011536076.1:c.793G>C	XP_011534378.1:p.Ala265Pro
XM_011536077.1:c.793G>C	XP_011534379.1:p.Ala265Pro
XR_245546.1:n.1018-5589G>C
XM_005267106.5:c.856G>C	XP_005267163.1:p.Ala286Pro
XM_011536075.2:c.793G>C	XP_011534377.1:p.Ala265Pro
XM_011536076.3:c.793G>C	XP_011534378.1:p.Ala265Pro
XM_017011203.2:c.793G>C	XP_016866692.1:p.Ala265Pro
XR_001743588.1:n.1193G>C
XR_001743589.1:n.1018-5589G>C
NM_021977.4:c.1249G>C MANE Select	NP_068812.1:p.Ala417Pro