Canonical Allele Identifier: CA2680762504
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398796C>A , CM000668.2:g.150398796C>A GRCh38
NC_000006.11:g.150719932C>A , CM000668.1:g.150719932C>A GRCh37
NC_000006.10:g.150761625C>A NCBI36
NG_016007.1:g.34905C>A
NG_016007.2:g.34905C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*559C>A MANE Select ENSP00000343763.4:n.*559C>A
ENST00000229447.9:c.*659C>A ENSP00000229447.5:n.*659C>A
ENST00000344419.7:c.*559C>A ENSP00000343763.3:n.*559C>A
NM_001164694.1:c.*659C>A NP_001158166.1:n.*659C>A
NM_001164695.1:c.*746C>A NP_001158167.1:n.*746C>A
NM_203395.2:c.*559C>A NP_981932.1:n.*559C>A
NM_001318495.1:c.*559C>A NP_001305424.1:n.*559C>A
NR_134655.1:n.1742C>A
NM_001164694.2:c.*659C>A NP_001158166.1:n.*659C>A
NM_001164695.2:c.*746C>A NP_001158167.1:n.*746C>A
NM_001318495.2:c.*559C>A NP_001305424.1:n.*559C>A
NM_203395.3:c.*559C>A MANE Select NP_981932.1:n.*559C>A
NR_134655.2:n.1622C>A