Canonical Allele Identifier: CA366030373
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150389451T>G , CM000668.2:g.150389451T>G GRCh38
NC_000006.11:g.150710587T>G , CM000668.1:g.150710587T>G GRCh37
NC_000006.10:g.150752280T>G NCBI36
NG_016007.1:g.25560T>G
NG_016007.2:g.25560T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.278T>G MANE Select ENSP00000343763.4:p.Phe93Cys
ENST00000229447.9:c.278T>G ENSP00000229447.5:p.Phe93Cys
ENST00000344419.7:c.278T>G ENSP00000343763.3:p.Phe93Cys
ENST00000367335.7:c.278T>G ENSP00000356304.3:p.Phe93Cys
ENST00000392255.7:c.278T>G ENSP00000376084.3:p.Phe93Cys
ENST00000392256.6:c.278T>G ENSP00000376085.2:p.Phe93Cys
ENST00000422583.2:c.155T>G ENSP00000397342.2:p.Phe52Cys
ENST00000425615.3:c.113T>G ENSP00000390081.3:p.Phe38Cys
ENST00000500320.7:c.278T>G ENSP00000441276.1:p.Phe93Cys
ENST00000546121.1:n.221T>G
NM_001164694.1:c.278T>G NP_001158166.1:p.Phe93Cys
NM_001164695.1:c.278T>G NP_001158167.1:p.Phe93Cys
NM_203395.2:c.278T>G NP_981932.1:p.Phe93Cys
XM_006715478.2:c.278T>G XP_006715541.1:p.Phe93Cys
XM_006715479.2:c.113T>G XP_006715542.1:p.Phe38Cys
XR_245516.3:n.441T>G
NM_001318495.1:c.100T>G NP_001305424.1:p.Phe34Val
NR_134655.1:n.418T>G
XM_006715478.3:c.278T>G XP_006715541.1:p.Phe93Cys
XM_006715479.3:c.113T>G XP_006715542.1:p.Phe38Cys
NM_001164694.2:c.278T>G NP_001158166.1:p.Phe93Cys
NM_001164695.2:c.278T>G NP_001158167.1:p.Phe93Cys
NM_001318495.2:c.100T>G NP_001305424.1:p.Phe34Val
NM_203395.3:c.278T>G MANE Select NP_981932.1:p.Phe93Cys
NR_134655.2:n.298T>G