Canonical Allele Identifier: CA185867
Gene: IL17RD HGNC NCBI

Linked Data

ClinVar Variation Id: 180145
dbSNP Id: rs200088377
gnomAD v2: 3-57140161-G-A
gnomAD v3: 3-57106133-G-A
gnomAD v4: 3-57106133-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.57106133G>A , CM000665.2:g.57106133G>A GRCh38
NC_000003.11:g.57140161G>A , CM000665.1:g.57140161G>A GRCh37
NC_000003.10:g.57115201G>A NCBI36
NG_047158.1:g.69185C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296318.12:c.572C>T MANE Select ENSP00000296318.7:p.Pro191Leu
ENST00000296318.11:c.572C>T ENSP00000296318.7:p.Pro191Leu
ENST00000320057.9:c.140C>T ENSP00000322250.5:p.Pro47Leu
ENST00000463523.5:c.140C>T ENSP00000417516.1:p.Pro47Leu
ENST00000467210.5:c.140C>T ENSP00000418368.1:p.Pro47Leu
ENST00000469841.5:n.509C>T
NM_017563.3:c.572C>T NP_060033.3:p.Pro191Leu
XM_005265238.3:c.488C>T XP_005265295.1:p.Pro163Leu
XM_006713209.2:c.140C>T XP_006713272.1:p.Pro47Leu
XM_011533849.1:c.500C>T XP_011532151.1:p.Pro167Leu
XM_011533850.1:c.140C>T XP_011532152.1:p.Pro47Leu
NM_001318864.1:c.140C>T NP_001305793.1:p.Pro47Leu
NM_017563.4:c.572C>T NP_060033.3:p.Pro191Leu
XM_005265238.4:c.488C>T XP_005265295.1:p.Pro163Leu
XM_011533849.2:c.140C>T XP_011532151.2:p.Pro47Leu
NM_017563.5:c.572C>T MANE Select NP_060033.3:p.Pro191Leu
NM_001318864.2:c.140C>T NP_001305793.1:p.Pro47Leu