Canonical Allele Identifier: CA216370282
Gene: SLC22A18 HGNC NCBI

Linked Data

dbSNP Id: rs552709615
gnomAD v3: 11-2915741-C-T
gnomAD v4: 11-2915741-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2915741C>T , CM000673.2:g.2915741C>T GRCh38
NC_000011.9:g.2936971C>T , CM000673.1:g.2936971C>T GRCh37
NC_000011.8:g.2893547C>T NCBI36
NG_011512.1:g.21021C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000649076.2:c.537-881C>T MANE Select ENSP00000497561.1:n.537-881C>T
ENST00000312221.9:c.537-881C>T ENSP00000311139.5:n.537-881C>T
ENST00000347936.6:c.537-881C>T ENSP00000307859.2:n.537-881C>T
ENST00000380574.5:c.537-881C>T ENSP00000369948.1:n.537-881C>T
ENST00000449793.6:c.243-881C>T ENSP00000392072.2:n.243-881C>T
ENST00000492567.2:n.507-468C>T
NM_001315501.1:c.792-881C>T NP_001302430.1:n.792-881C>T
NM_001315502.1:c.243-881C>T NP_001302431.1:n.243-881C>T
NM_002555.5:c.537-881C>T NP_002546.3:n.537-881C>T
NM_183233.2:c.537-881C>T NP_899056.2:n.537-881C>T
XM_005252953.3:c.107+485C>T XP_005253010.1:n.107+485C>T
XM_006718243.2:c.537-881C>T XP_006718306.1:n.537-881C>T
XM_011520140.1:c.735-881C>T XP_011518442.1:n.735-881C>T
XM_011520141.1:c.537-881C>T XP_011518443.1:n.537-881C>T
XM_011520142.1:c.537-881C>T XP_011518444.1:n.537-881C>T
XM_011520143.1:c.-459C>T XP_011518445.1:n.-459C>T
XM_011520141.2:c.792-881C>T XP_011518443.2:n.792-881C>T
XM_011520142.2:c.792-881C>T XP_011518444.2:n.792-881C>T
NM_001315502.2:c.243-881C>T NP_001302431.1:n.243-881C>T
NM_002555.6:c.537-881C>T MANE Select NP_002546.3:n.537-881C>T
NM_183233.3:c.537-881C>T NP_899056.2:n.537-881C>T
NM_001315501.2:c.792-881C>T NP_001302430.1:n.792-881C>T