Canonical Allele Identifier: CA366345986
Gene: SLC22A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160437104C>T , CM000668.2:g.160437104C>T GRCh38
NC_000006.11:g.160858136C>T , CM000668.1:g.160858136C>T GRCh37
NC_000006.10:g.160778126C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.1181C>T MANE Select ENSP00000275300.2:p.Ala394Val
ENST00000275300.2:c.1181C>T ENSP00000275300.2:p.Ala394Val
NM_021977.3:c.1181C>T NP_068812.1:p.Ala394Val
XM_005267106.3:c.788C>T XP_005267163.1:p.Ala263Val
XM_011536075.1:c.725C>T XP_011534377.1:p.Ala242Val
XM_011536076.1:c.725C>T XP_011534378.1:p.Ala242Val
XM_011536077.1:c.725C>T XP_011534379.1:p.Ala242Val
XR_245546.1:n.1018-5657C>T
XM_005267106.5:c.788C>T XP_005267163.1:p.Ala263Val
XM_011536075.2:c.725C>T XP_011534377.1:p.Ala242Val
XM_011536076.3:c.725C>T XP_011534378.1:p.Ala242Val
XM_017011203.2:c.725C>T XP_016866692.1:p.Ala242Val
XR_001743588.1:n.1125C>T
XR_001743589.1:n.1018-5657C>T
NM_021977.4:c.1181C>T MANE Select NP_068812.1:p.Ala394Val