Canonical Allele Identifier: CA116317
Gene: SLC22A12 HGNC NCBI

Linked Data

ClinVar Variation Id: 3516
dbSNP Id: rs121907896

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64591825G>A , CM000673.2:g.64591825G>A GRCh38
NC_000011.9:g.64359297G>A , CM000673.1:g.64359297G>A GRCh37
NC_000011.8:g.64115873G>A NCBI36
NG_008110.1:g.6016G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377574.6:c.269G>A MANE Select ENSP00000366797.1:p.Arg90His
ENST00000336464.7:c.269G>A ENSP00000336836.7:p.Arg90His
ENST00000377567.6:c.269G>A ENSP00000366790.2:p.Arg90His
ENST00000377572.5:c.269G>A ENSP00000366795.1:p.Arg90His
ENST00000377574.5:c.269G>A ENSP00000366797.1:p.Arg90His
ENST00000473690.5:c.-240G>A ENSP00000438437.1:n.-240G>A
NM_001276326.1:c.269G>A NP_001263255.1:p.Arg90His
NM_001276327.1:c.269G>A NP_001263256.1:p.Arg90His
NM_144585.3:c.269G>A NP_653186.2:p.Arg90His
NM_153378.2:c.-240G>A NP_700357.1:n.-240G>A
XM_006718430.2:c.269G>A XP_006718493.1:p.Arg90His
XM_006718431.2:c.164G>A XP_006718494.1:p.Arg55His
XM_006718430.4:c.269G>A XP_006718493.1:p.Arg90His
XM_006718431.4:c.164G>A XP_006718494.1:p.Arg55His
NM_144585.4:c.269G>A MANE Select NP_653186.2:p.Arg90His
NM_001276326.2:c.269G>A NP_001263255.1:p.Arg90His
NM_153378.3:c.-240G>A NP_700357.1:n.-240G>A
NM_001276327.2:c.269G>A NP_001263256.1:p.Arg90His