Canonical Allele Identifier: CA366030574
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150389480G>T , CM000668.2:g.150389480G>T GRCh38
NC_000006.11:g.150710616G>T , CM000668.1:g.150710616G>T GRCh37
NC_000006.10:g.150752309G>T NCBI36
NG_016007.1:g.25589G>T
NG_016007.2:g.25589G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.307G>T MANE Select ENSP00000343763.4:p.Val103Phe
ENST00000229447.9:c.307G>T ENSP00000229447.5:p.Val103Phe
ENST00000344419.7:c.307G>T ENSP00000343763.3:p.Val103Phe
ENST00000367335.7:c.307G>T ENSP00000356304.3:p.Val103Phe
ENST00000392255.7:c.307G>T ENSP00000376084.3:p.Val103Phe
ENST00000392256.6:c.307G>T ENSP00000376085.2:p.Val103Phe
ENST00000422583.2:c.179+5G>T ENSP00000397342.2:n.179+5G>T
ENST00000425615.3:c.142G>T ENSP00000390081.3:p.Val48Phe
ENST00000500320.7:c.307G>T ENSP00000441276.1:p.Val103Phe
ENST00000546121.1:n.250G>T
NM_001164694.1:c.307G>T NP_001158166.1:p.Val103Phe
NM_001164695.1:c.307G>T NP_001158167.1:p.Val103Phe
NM_203395.2:c.307G>T NP_981932.1:p.Val103Phe
XM_006715478.2:c.307G>T XP_006715541.1:p.Val103Phe
XM_006715479.2:c.142G>T XP_006715542.1:p.Val48Phe
XR_245516.3:n.470G>T
NM_001318495.1:c.124+5G>T NP_001305424.1:n.124+5G>T
NR_134655.1:n.447G>T
XM_006715478.3:c.307G>T XP_006715541.1:p.Val103Phe
XM_006715479.3:c.142G>T XP_006715542.1:p.Val48Phe
NM_001164694.2:c.307G>T NP_001158166.1:p.Val103Phe
NM_001164695.2:c.307G>T NP_001158167.1:p.Val103Phe
NM_001318495.2:c.124+5G>T NP_001305424.1:n.124+5G>T
NM_203395.3:c.307G>T MANE Select NP_981932.1:p.Val103Phe
NR_134655.2:n.327G>T