Canonical Allele Identifier: CA114466
Gene: IYD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 739
ClinVar RCV Id: RCV000000775
dbSNP Id: rs121918139

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150389520T>C , CM000668.2:g.150389520T>C GRCh38
NC_000006.10:g.150752349T>C NCBI36
NC_000006.11:g.150710656T>C , CM000668.1:g.150710656T>C GRCh37
NG_016007.1:g.25629T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000229447.9:c.347T>C ENSP00000229447.5:p.Ile116Thr
ENST00000344419.7:c.347T>C ENSP00000343763.3:p.Ile116Thr
ENST00000367335.7:c.347T>C ENSP00000356304.3:p.Ile116Thr
ENST00000392255.7:c.347T>C ENSP00000376084.3:p.Ile116Thr
ENST00000392256.6:c.347T>C ENSP00000376085.2:p.Ile116Thr
ENST00000422583.2:n.179+45T>C ENSP00000397342.2:p.=
ENST00000425615.3:c.182T>C ENSP00000390081.3:p.Ile61Thr
ENST00000500320.7:c.347T>C ENSP00000441276.1:p.Ile116Thr
ENST00000546121.1:n.290T>C
NM_001164694.1:c.347T>C VV NP_001158166.1:p.Ile116Thr
NM_001164695.1:c.347T>C VV NP_001158167.1:p.Ile116Thr
NM_203395.2:c.347T>C VV NP_981932.1:p.Ile116Thr
XM_006715478.2:c.347T>C XP_006715541.1:p.Ile116Thr
XM_006715479.2:c.182T>C XP_006715542.1:p.Ile61Thr
XR_245516.3:n.510T>C
NM_001318495.1:c.124+45T>C VV NP_001305424.1:p.=
NR_134655.1:n.487T>C
XM_006715478.3:c.347T>C
XM_006715479.3:c.182T>C