Canonical Allele Identifier: CA474956114
Gene: SLC22A12 HGNC NCBI

Linked Data

dbSNP Id: rs1591400016

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64598549_64598550insGA , CM000673.2:g.64598549_64598550insGA GRCh38
NC_000011.9:g.64366021_64366022insGA , CM000673.1:g.64366021_64366022insGA GRCh37
NC_000011.8:g.64122597_64122598insGA NCBI36
NG_008110.1:g.12740_12741insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000377574.6:c.864_865insGA MANE Select ENSP00000366797.1:p.Thr289GlufsTer28
ENST00000336464.7:c.762_763insGA ENSP00000336836.7:p.Thr255GlufsTer28
ENST00000377567.6:c.540_541insGA ENSP00000366790.2:p.Thr181GlufsTer28
ENST00000377572.5:c.540_541insGA ENSP00000366795.1:p.Thr181GlufsTer28
ENST00000377574.5:c.864_865insGA ENSP00000366797.1:p.Thr289GlufsTer28
ENST00000473690.5:c.201_202insGA ENSP00000438437.1:p.Thr68GlufsTer28
NM_001276326.1:c.762_763insGA NP_001263255.1:p.Thr255GlufsTer28
NM_001276327.1:c.540_541insGA NP_001263256.1:p.Thr181GlufsTer28
NM_144585.3:c.864_865insGA NP_653186.2:p.Thr289GlufsTer28
NM_153378.2:c.201_202insGA NP_700357.1:p.Thr68GlufsTer28
XM_006718430.2:c.939_940insGA XP_006718493.1:p.Thr314GlufsTer28
XM_006718431.2:c.834_835insGA XP_006718494.1:p.Thr279GlufsTer28
XM_006718430.4:c.939_940insGA XP_006718493.1:p.Thr314GlufsTer28
XM_006718431.4:c.834_835insGA XP_006718494.1:p.Thr279GlufsTer28
NM_144585.4:c.864_865insGA MANE Select NP_653186.2:p.Thr289GlufsTer28
NM_001276326.2:c.762_763insGA NP_001263255.1:p.Thr255GlufsTer28
NM_153378.3:c.201_202insGA NP_700357.1:p.Thr68GlufsTer28
NM_001276327.2:c.540_541insGA NP_001263256.1:p.Thr181GlufsTer28