Canonical Allele Identifier: CA114467
Gene: IYD HGNC NCBI

Linked Data

ClinVar Variation Id: 740
ClinVar RCV Id: RCV000000776
dbSNP Id: rs121918140

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150394226G>A , CM000668.2:g.150394226G>A GRCh38
NC_000006.11:g.150715362G>A , CM000668.1:g.150715362G>A GRCh37
NC_000006.10:g.150757055G>A NCBI36
NG_016007.1:g.30335G>A
NG_016007.2:g.30335G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.658G>A MANE Select ENSP00000343763.4:p.Ala220Thr
ENST00000229447.9:c.658G>A ENSP00000229447.5:p.Ala220Thr
ENST00000344419.7:c.658G>A ENSP00000343763.3:p.Ala220Thr
ENST00000367335.7:c.658G>A ENSP00000356304.3:p.Ala220Thr
ENST00000392255.7:c.658G>A ENSP00000376084.3:p.Ala220Thr
ENST00000392256.6:c.658G>A ENSP00000376085.2:p.Ala220Thr
ENST00000422583.2:c.467G>A ENSP00000397342.2:n.467G>A
ENST00000425615.3:c.493G>A ENSP00000390081.3:p.Ala165Thr
ENST00000500320.7:c.658G>A ENSP00000441276.1:p.Ala220Thr
NM_001164694.1:c.658G>A NP_001158166.1:p.Ala220Thr
NM_001164695.1:c.658G>A NP_001158167.1:p.Ala220Thr
NM_203395.2:c.658G>A NP_981932.1:p.Ala220Thr
XM_006715478.2:c.658G>A XP_006715541.1:p.Ala220Thr
XM_006715479.2:c.493G>A XP_006715542.1:p.Ala165Thr
XR_245516.3:n.821G>A
NM_001318495.1:c.412G>A NP_001305424.1:p.Ala138Thr
NR_134655.1:n.798G>A
XM_006715478.3:c.658G>A XP_006715541.1:p.Ala220Thr
XM_006715479.3:c.493G>A XP_006715542.1:p.Ala165Thr
NM_001164694.2:c.658G>A NP_001158166.1:p.Ala220Thr
NM_001164695.2:c.658G>A NP_001158167.1:p.Ala220Thr
NM_001318495.2:c.412G>A NP_001305424.1:p.Ala138Thr
NM_203395.3:c.658G>A MANE Select NP_981932.1:p.Ala220Thr
NR_134655.2:n.678G>A