Canonical Allele Identifier: CA366345715

Gene: SLC22A3

Linked Data

• gnomAD v4: 6-160436864-C-T
• COSMIC: COSM236572
• MyVariant Identifiers: chr6:g.160857896C>T (hg19) ; chr6:g.160436864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160436864C>T , CM000668.2:g.160436864C>T	GRCh38
NC_000006.11:g.160857896C>T , CM000668.1:g.160857896C>T	GRCh37
NC_000006.10:g.160777886C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1060C>T MANE Select	ENSP00000275300.2:p.Leu354Phe
ENST00000275300.2:c.1060C>T	ENSP00000275300.2:p.Leu354Phe
NM_021977.3:c.1060C>T	NP_068812.1:p.Leu354Phe
XM_005267106.3:c.667C>T	XP_005267163.1:p.Leu223Phe
XM_011536075.1:c.604C>T	XP_011534377.1:p.Leu202Phe
XM_011536076.1:c.604C>T	XP_011534378.1:p.Leu202Phe
XM_011536077.1:c.604C>T	XP_011534379.1:p.Leu202Phe
XR_245546.1:n.1018-5897C>T
XM_005267106.5:c.667C>T	XP_005267163.1:p.Leu223Phe
XM_011536075.2:c.604C>T	XP_011534377.1:p.Leu202Phe
XM_011536076.3:c.604C>T	XP_011534378.1:p.Leu202Phe
XM_017011203.2:c.604C>T	XP_016866692.1:p.Leu202Phe
XR_001743588.1:n.1018-133C>T
XR_001743589.1:n.1018-5897C>T
NM_021977.4:c.1060C>T MANE Select	NP_068812.1:p.Leu354Phe