Canonical Allele Identifier: CA4085174

Gene: SLC22A3

Linked Data

• dbSNP Id: rs772615284
• ExAC: 6:160858211 T / G
• gnomAD v2: 6-160858211-T-G
• gnomAD v3: 6-160437179-T-G
• gnomAD v4: 6-160437179-T-G
• MyVariant Identifiers: chr6:g.160858211T>G (hg19) ; chr6:g.160437179T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437179T>G , CM000668.2:g.160437179T>G	GRCh38
NC_000006.11:g.160858211T>G , CM000668.1:g.160858211T>G	GRCh37
NC_000006.10:g.160778201T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1256T>G MANE Select	ENSP00000275300.2:p.Val419Gly
ENST00000275300.2:c.1256T>G	ENSP00000275300.2:p.Val419Gly
NM_021977.3:c.1256T>G	NP_068812.1:p.Val419Gly
XM_005267106.3:c.863T>G	XP_005267163.1:p.Val288Gly
XM_011536075.1:c.800T>G	XP_011534377.1:p.Val267Gly
XM_011536076.1:c.800T>G	XP_011534378.1:p.Val267Gly
XM_011536077.1:c.800T>G	XP_011534379.1:p.Val267Gly
XR_245546.1:n.1018-5582T>G
XM_005267106.5:c.863T>G	XP_005267163.1:p.Val288Gly
XM_011536075.2:c.800T>G	XP_011534377.1:p.Val267Gly
XM_011536076.3:c.800T>G	XP_011534378.1:p.Val267Gly
XM_017011203.2:c.800T>G	XP_016866692.1:p.Val267Gly
XR_001743588.1:n.1200T>G
XR_001743589.1:n.1018-5582T>G
NM_021977.4:c.1256T>G MANE Select	NP_068812.1:p.Val419Gly