Canonical Allele Identifier: CA223626391
Gene: SLC22A8 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62999835G>T , CM000673.2:g.62999835G>T GRCh38
NC_000011.9:g.62767307G>T , CM000673.1:g.62767307G>T GRCh37
NC_000011.8:g.62523883G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.445C>A MANE Select ENSP00000337335.2:p.Arg149Ser
ENST00000311438.12:c.445C>A ENSP00000311463.8:p.Arg149Ser
ENST00000336232.6:c.445C>A ENSP00000337335.2:p.Arg149Ser
ENST00000430500.6:c.445C>A ENSP00000398548.2:p.Arg149Ser
ENST00000535878.5:c.76C>A ENSP00000443368.1:p.Arg26Ser
ENST00000542795.5:n.166C>A
ENST00000542904.1:n.285C>A
ENST00000545207.5:c.172C>A ENSP00000441658.1:p.Arg58Ser
NM_001184732.1:c.445C>A NP_001171661.1:p.Arg149Ser
NM_001184733.1:c.172C>A NP_001171662.1:p.Arg58Ser
NM_001184736.1:c.76C>A NP_001171665.1:p.Arg26Ser
NM_004254.3:c.445C>A NP_004245.2:p.Arg149Ser
XM_011545364.1:c.76C>A XP_011543666.1:p.Arg26Ser
NM_004254.4:c.445C>A MANE Select NP_004245.2:p.Arg149Ser
NM_001184732.2:c.445C>A NP_001171661.1:p.Arg149Ser
NM_001184733.2:c.172C>A NP_001171662.1:p.Arg58Ser
NM_001184736.2:c.76C>A NP_001171665.1:p.Arg26Ser