Canonical Allele Identifier: CA4085109

Gene: SLC22A3

Linked Data

• ClinVar Variation Id: 2458894
• ClinVar RCV Id: RCV004250935
• dbSNP Id: rs145328121
• ExAC: 6:160857878 A / T
• gnomAD v2: 6-160857878-A-T
• gnomAD v3: 6-160436846-A-T
• gnomAD v4: 6-160436846-A-T
• MyVariant Identifiers: chr6:g.160857878A>T (hg19) ; chr6:g.160436846A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160436846A>T , CM000668.2:g.160436846A>T	GRCh38
NC_000006.11:g.160857878A>T , CM000668.1:g.160857878A>T	GRCh37
NC_000006.10:g.160777868A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1042A>T MANE Select	ENSP00000275300.2:p.Arg348Trp
ENST00000275300.2:c.1042A>T	ENSP00000275300.2:p.Arg348Trp
NM_021977.3:c.1042A>T	NP_068812.1:p.Arg348Trp
XM_005267106.3:c.649A>T	XP_005267163.1:p.Arg217Trp
XM_011536075.1:c.586A>T	XP_011534377.1:p.Arg196Trp
XM_011536076.1:c.586A>T	XP_011534378.1:p.Arg196Trp
XM_011536077.1:c.586A>T	XP_011534379.1:p.Arg196Trp
XR_245546.1:n.1018-5915A>T
XM_005267106.5:c.649A>T	XP_005267163.1:p.Arg217Trp
XM_011536075.2:c.586A>T	XP_011534377.1:p.Arg196Trp
XM_011536076.3:c.586A>T	XP_011534378.1:p.Arg196Trp
XM_017011203.2:c.586A>T	XP_016866692.1:p.Arg196Trp
XR_001743588.1:n.1018-151A>T
XR_001743589.1:n.1018-5915A>T
NM_021977.4:c.1042A>T MANE Select	NP_068812.1:p.Arg348Trp