Canonical Allele Identifier: CA366345685

Gene: SLC22A3

Linked Data

• MyVariant Identifiers: chr6:g.160857883A>C (hg19) ; chr6:g.160436851A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160436851A>C , CM000668.2:g.160436851A>C	GRCh38
NC_000006.11:g.160857883A>C , CM000668.1:g.160857883A>C	GRCh37
NC_000006.10:g.160777873A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1047A>C MANE Select	ENSP00000275300.2:p.Lys349Asn
ENST00000275300.2:c.1047A>C	ENSP00000275300.2:p.Lys349Asn
NM_021977.3:c.1047A>C	NP_068812.1:p.Lys349Asn
XM_005267106.3:c.654A>C	XP_005267163.1:p.Lys218Asn
XM_011536075.1:c.591A>C	XP_011534377.1:p.Lys197Asn
XM_011536076.1:c.591A>C	XP_011534378.1:p.Lys197Asn
XM_011536077.1:c.591A>C	XP_011534379.1:p.Lys197Asn
XR_245546.1:n.1018-5910A>C
XM_005267106.5:c.654A>C	XP_005267163.1:p.Lys218Asn
XM_011536075.2:c.591A>C	XP_011534377.1:p.Lys197Asn
XM_011536076.3:c.591A>C	XP_011534378.1:p.Lys197Asn
XM_017011203.2:c.591A>C	XP_016866692.1:p.Lys197Asn
XR_001743588.1:n.1018-146A>C
XR_001743589.1:n.1018-5910A>C
NM_021977.4:c.1047A>C MANE Select	NP_068812.1:p.Lys349Asn