Canonical Allele Identifier: CA366030829
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150389529T>A , CM000668.2:g.150389529T>A GRCh38
NC_000006.11:g.150710665T>A , CM000668.1:g.150710665T>A GRCh37
NC_000006.10:g.150752358T>A NCBI36
NG_016007.1:g.25638T>A
NG_016007.2:g.25638T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344419.8:c.356T>A MANE Select ENSP00000343763.4:p.Val119Asp
ENST00000229447.9:c.356T>A ENSP00000229447.5:p.Val119Asp
ENST00000344419.7:c.356T>A ENSP00000343763.3:p.Val119Asp
ENST00000367335.7:c.356T>A ENSP00000356304.3:p.Val119Asp
ENST00000392255.7:c.356T>A ENSP00000376084.3:p.Val119Asp
ENST00000392256.6:c.356T>A ENSP00000376085.2:p.Val119Asp
ENST00000422583.2:c.179+54T>A ENSP00000397342.2:n.179+54T>A
ENST00000425615.3:c.191T>A ENSP00000390081.3:p.Val64Asp
ENST00000500320.7:c.356T>A ENSP00000441276.1:p.Val119Asp
ENST00000546121.1:n.299T>A
NM_001164694.1:c.356T>A NP_001158166.1:p.Val119Asp
NM_001164695.1:c.356T>A NP_001158167.1:p.Val119Asp
NM_203395.2:c.356T>A NP_981932.1:p.Val119Asp
XM_006715478.2:c.356T>A XP_006715541.1:p.Val119Asp
XM_006715479.2:c.191T>A XP_006715542.1:p.Val64Asp
XR_245516.3:n.519T>A
NM_001318495.1:c.124+54T>A NP_001305424.1:n.124+54T>A
NR_134655.1:n.496T>A
XM_006715478.3:c.356T>A XP_006715541.1:p.Val119Asp
XM_006715479.3:c.191T>A XP_006715542.1:p.Val64Asp
NM_001164694.2:c.356T>A NP_001158166.1:p.Val119Asp
NM_001164695.2:c.356T>A NP_001158167.1:p.Val119Asp
NM_001318495.2:c.124+54T>A NP_001305424.1:n.124+54T>A
NM_203395.3:c.356T>A MANE Select NP_981932.1:p.Val119Asp
NR_134655.2:n.376T>A