Canonical Allele Identifier: CA380983967
Gene: SLC22A8 HGNC NCBI

Linked Data

dbSNP Id: rs1183866847

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62998978C>G , CM000673.2:g.62998978C>G GRCh38
NC_000011.9:g.62766450C>G , CM000673.1:g.62766450C>G GRCh37
NC_000011.8:g.62523026C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336232.7:c.704G>C MANE Select ENSP00000337335.2:p.Trp235Ser
ENST00000311438.12:c.704G>C ENSP00000311463.8:p.Trp235Ser
ENST00000336232.6:c.704G>C ENSP00000337335.2:p.Trp235Ser
ENST00000430500.6:c.704G>C ENSP00000398548.2:p.Trp235Ser
ENST00000535878.5:c.335G>C ENSP00000443368.1:p.Trp112Ser
ENST00000539841.1:n.522G>C
ENST00000542795.5:n.425G>C
ENST00000542904.1:n.544G>C
ENST00000545207.5:c.431G>C ENSP00000441658.1:p.Trp144Ser
NM_001184732.1:c.704G>C NP_001171661.1:p.Trp235Ser
NM_001184733.1:c.431G>C NP_001171662.1:p.Trp144Ser
NM_001184736.1:c.335G>C NP_001171665.1:p.Trp112Ser
NM_004254.3:c.704G>C NP_004245.2:p.Trp235Ser
XM_011545364.1:c.335G>C XP_011543666.1:p.Trp112Ser
NM_004254.4:c.704G>C MANE Select NP_004245.2:p.Trp235Ser
NM_001184732.2:c.704G>C NP_001171661.1:p.Trp235Ser
NM_001184733.2:c.431G>C NP_001171662.1:p.Trp144Ser
NM_001184736.2:c.335G>C NP_001171665.1:p.Trp112Ser