Canonical Allele Identifier: CA366346173

Gene: SLC22A3

Linked Data

• MyVariant Identifiers: chr6:g.160858235T>C (hg19) ; chr6:g.160437203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437203T>C , CM000668.2:g.160437203T>C	GRCh38
NC_000006.11:g.160858235T>C , CM000668.1:g.160858235T>C	GRCh37
NC_000006.10:g.160778225T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1280T>C MANE Select	ENSP00000275300.2:p.Leu427Ser
ENST00000275300.2:c.1280T>C	ENSP00000275300.2:p.Leu427Ser
NM_021977.3:c.1280T>C	NP_068812.1:p.Leu427Ser
XM_005267106.3:c.887T>C	XP_005267163.1:p.Leu296Ser
XM_011536075.1:c.824T>C	XP_011534377.1:p.Leu275Ser
XM_011536076.1:c.824T>C	XP_011534378.1:p.Leu275Ser
XM_011536077.1:c.824T>C	XP_011534379.1:p.Leu275Ser
XR_245546.1:n.1018-5558T>C
XM_005267106.5:c.887T>C	XP_005267163.1:p.Leu296Ser
XM_011536075.2:c.824T>C	XP_011534377.1:p.Leu275Ser
XM_011536076.3:c.824T>C	XP_011534378.1:p.Leu275Ser
XM_017011203.2:c.824T>C	XP_016866692.1:p.Leu275Ser
XR_001743588.1:n.1224T>C
XR_001743589.1:n.1018-5558T>C
NM_021977.4:c.1280T>C MANE Select	NP_068812.1:p.Leu427Ser