Canonical Allele Identifier: CA366346156

Gene: SLC22A3

Linked Data

• dbSNP Id: rs1402050753
• gnomAD v2: 6-160858226-C-T
• gnomAD v4: 6-160437194-C-T
• MyVariant Identifiers: chr6:g.160858226C>T (hg19) ; chr6:g.160437194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437194C>T , CM000668.2:g.160437194C>T	GRCh38
NC_000006.11:g.160858226C>T , CM000668.1:g.160858226C>T	GRCh37
NC_000006.10:g.160778216C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1271C>T MANE Select	ENSP00000275300.2:p.Thr424Ile
ENST00000275300.2:c.1271C>T	ENSP00000275300.2:p.Thr424Ile
NM_021977.3:c.1271C>T	NP_068812.1:p.Thr424Ile
XM_005267106.3:c.878C>T	XP_005267163.1:p.Thr293Ile
XM_011536075.1:c.815C>T	XP_011534377.1:p.Thr272Ile
XM_011536076.1:c.815C>T	XP_011534378.1:p.Thr272Ile
XM_011536077.1:c.815C>T	XP_011534379.1:p.Thr272Ile
XR_245546.1:n.1018-5567C>T
XM_005267106.5:c.878C>T	XP_005267163.1:p.Thr293Ile
XM_011536075.2:c.815C>T	XP_011534377.1:p.Thr272Ile
XM_011536076.3:c.815C>T	XP_011534378.1:p.Thr272Ile
XM_017011203.2:c.815C>T	XP_016866692.1:p.Thr272Ile
XR_001743588.1:n.1215C>T
XR_001743589.1:n.1018-5567C>T
NM_021977.4:c.1271C>T MANE Select	NP_068812.1:p.Thr424Ile