Canonical Allele Identifier: CA366345866

Gene: SLC22A3

Linked Data

• dbSNP Id: rs1295483269
• gnomAD v4: 6-160437048-A-G
• MyVariant Identifiers: chr6:g.160858080A>G (hg19) ; chr6:g.160437048A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437048A>G , CM000668.2:g.160437048A>G	GRCh38
NC_000006.11:g.160858080A>G , CM000668.1:g.160858080A>G	GRCh37
NC_000006.10:g.160778070A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1125A>G MANE Select	ENSP00000275300.2:p.Ile375Met
ENST00000275300.2:c.1125A>G	ENSP00000275300.2:p.Ile375Met
NM_021977.3:c.1125A>G	NP_068812.1:p.Ile375Met
XM_005267106.3:c.732A>G	XP_005267163.1:p.Ile244Met
XM_011536075.1:c.669A>G	XP_011534377.1:p.Ile223Met
XM_011536076.1:c.669A>G	XP_011534378.1:p.Ile223Met
XM_011536077.1:c.669A>G	XP_011534379.1:p.Ile223Met
XR_245546.1:n.1018-5713A>G
XM_005267106.5:c.732A>G	XP_005267163.1:p.Ile244Met
XM_011536075.2:c.669A>G	XP_011534377.1:p.Ile223Met
XM_011536076.3:c.669A>G	XP_011534378.1:p.Ile223Met
XM_017011203.2:c.669A>G	XP_016866692.1:p.Ile223Met
XR_001743588.1:n.1069A>G
XR_001743589.1:n.1018-5713A>G
NM_021977.4:c.1125A>G MANE Select	NP_068812.1:p.Ile375Met