Canonical Allele Identifier: CA4085112

Gene: SLC22A3

Linked Data

• dbSNP Id: rs746882739
• ExAC: 6:160857899 AT / A
• gnomAD v2: 6-160857899-AT-A
• gnomAD v4: 6-160436867-AT-A
• MyVariant Identifiers: chr6:g.160857900del (hg19) ; chr6:g.160436868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160436868del , CM000668.2:g.160436868del	GRCh38
NC_000006.11:g.160857900del , CM000668.1:g.160857900del	GRCh37
NC_000006.10:g.160777890del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1064del MANE Select	ENSP00000275300.2:p.Met355SerfsTer21
ENST00000275300.2:c.1064del	ENSP00000275300.2:p.Met355SerfsTer21
NM_021977.3:c.1064del	NP_068812.1:p.Met355SerfsTer21
XM_005267106.3:c.671del	XP_005267163.1:p.Met224SerfsTer21
XM_011536075.1:c.608del	XP_011534377.1:p.Met203SerfsTer21
XM_011536076.1:c.608del	XP_011534378.1:p.Met203SerfsTer21
XM_011536077.1:c.608del	XP_011534379.1:p.Met203SerfsTer21
XR_245546.1:n.1018-5893del
XM_005267106.5:c.671del	XP_005267163.1:p.Met224SerfsTer21
XM_011536075.2:c.608del	XP_011534377.1:p.Met203SerfsTer21
XM_011536076.3:c.608del	XP_011534378.1:p.Met203SerfsTer21
XM_017011203.2:c.608del	XP_016866692.1:p.Met203SerfsTer21
XR_001743588.1:n.1018-129del
XR_001743589.1:n.1018-5893del
NM_021977.4:c.1064del MANE Select	NP_068812.1:p.Met355SerfsTer21