Canonical Allele Identifier: CA4085183

Gene: SLC22A3

Linked Data

• dbSNP Id: rs745417357
• ExAC: 6:160858252 AC / A
• gnomAD v2: 6-160858252-AC-A
• gnomAD v4: 6-160437220-AC-A
• MyVariant Identifiers: chr6:g.160858253del (hg19) ; chr6:g.160437221del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437224del , CM000668.2:g.160437224del	GRCh38
NC_000006.11:g.160858256del , CM000668.1:g.160858256del	GRCh37
NC_000006.10:g.160778246del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1288+13del MANE Select	ENSP00000275300.2:n.1288+13del
ENST00000275300.2:c.1288+13del	ENSP00000275300.2:n.1288+13del
NM_021977.3:c.1288+13del	NP_068812.1:n.1288+13del
XM_005267106.3:c.895+13del	XP_005267163.1:n.895+13del
XM_011536075.1:c.832+13del	XP_011534377.1:n.832+13del
XM_011536076.1:c.832+13del	XP_011534378.1:n.832+13del
XM_011536077.1:c.832+13del	XP_011534379.1:n.832+13del
XR_245546.1:n.1018-5537del
XM_005267106.5:c.895+13del	XP_005267163.1:n.895+13del
XM_011536075.2:c.832+13del	XP_011534377.1:n.832+13del
XM_011536076.3:c.832+13del	XP_011534378.1:n.832+13del
XM_017011203.2:c.832+13del	XP_016866692.1:n.832+13del
XR_001743588.1:n.1232+13del
XR_001743589.1:n.1018-5537del
NM_021977.4:c.1288+13del MANE Select	NP_068812.1:n.1288+13del