Canonical Allele Identifier: CA366346112

Gene: SLC22A3

Linked Data

• MyVariant Identifiers: chr6:g.160858202T>C (hg19) ; chr6:g.160437170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437170T>C , CM000668.2:g.160437170T>C	GRCh38
NC_000006.11:g.160858202T>C , CM000668.1:g.160858202T>C	GRCh37
NC_000006.10:g.160778192T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1247T>C MANE Select	ENSP00000275300.2:p.Val416Ala
ENST00000275300.2:c.1247T>C	ENSP00000275300.2:p.Val416Ala
NM_021977.3:c.1247T>C	NP_068812.1:p.Val416Ala
XM_005267106.3:c.854T>C	XP_005267163.1:p.Val285Ala
XM_011536075.1:c.791T>C	XP_011534377.1:p.Val264Ala
XM_011536076.1:c.791T>C	XP_011534378.1:p.Val264Ala
XM_011536077.1:c.791T>C	XP_011534379.1:p.Val264Ala
XR_245546.1:n.1018-5591T>C
XM_005267106.5:c.854T>C	XP_005267163.1:p.Val285Ala
XM_011536075.2:c.791T>C	XP_011534377.1:p.Val264Ala
XM_011536076.3:c.791T>C	XP_011534378.1:p.Val264Ala
XM_017011203.2:c.791T>C	XP_016866692.1:p.Val264Ala
XR_001743588.1:n.1191T>C
XR_001743589.1:n.1018-5591T>C
NM_021977.4:c.1247T>C MANE Select	NP_068812.1:p.Val416Ala