Canonical Allele Identifier: CA143828
Gene: IL17RD HGNC NCBI

Linked Data

ClinVar Variation Id: 50867
dbSNP Id: rs184758350
gnomAD v2: 3-57144258-T-G
gnomAD v3: 3-57110230-T-G
gnomAD v4: 3-57110230-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.57110230T>G , CM000665.2:g.57110230T>G GRCh38
NC_000003.11:g.57144258T>G , CM000665.1:g.57144258T>G GRCh37
NC_000003.10:g.57119298T>G NCBI36
NG_047158.1:g.65088A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296318.12:c.392A>C MANE Select ENSP00000296318.7:p.Lys131Thr
ENST00000296318.11:c.392A>C ENSP00000296318.7:p.Lys131Thr
ENST00000320057.9:c.-41A>C ENSP00000322250.5:n.-41A>C
ENST00000463523.5:c.-41A>C ENSP00000417516.1:n.-41A>C
ENST00000467210.5:c.-41A>C ENSP00000418368.1:n.-41A>C
ENST00000469841.5:n.329A>C
NM_017563.3:c.392A>C NP_060033.3:p.Lys131Thr
XM_005265238.3:c.308A>C XP_005265295.1:p.Lys103Thr
XM_006713209.2:c.-41A>C XP_006713272.1:n.-41A>C
XM_011533849.1:c.320A>C XP_011532151.1:p.Lys107Thr
XM_011533850.1:c.-41A>C XP_011532152.1:n.-41A>C
NM_001318864.1:c.-41A>C NP_001305793.1:n.-41A>C
NM_017563.4:c.392A>C NP_060033.3:p.Lys131Thr
XM_005265238.4:c.308A>C XP_005265295.1:p.Lys103Thr
XM_011533849.2:c.-41A>C XP_011532151.2:n.-41A>C
NM_017563.5:c.392A>C MANE Select NP_060033.3:p.Lys131Thr
NM_001318864.2:c.-41A>C NP_001305793.1:n.-41A>C