Canonical Allele Identifier: CA143828

Gene: IL17RD

Linked Data

• ClinVar Variation Id: 50867
• ClinVar RCV Id: RCV000043609 ; RCV000156943 ; RCV000442073 ; RCV001818215
• dbSNP Id: rs184758350
• ExAC: 3:57144258 T / G
• gnomAD v2: 3-57144258-T-G
• gnomAD v3: 3-57110230-T-G
• gnomAD v4: 3-57110230-T-G
• MyVariant Identifiers: chr3:g.57144258T>G (hg19) ; chr3:g.57110230T>G (hg38)
• PubMed: PMID:23643382 ; PMID:25636053

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