Canonical Allele Identifier: CA2680762344
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398592G>T , CM000668.2:g.150398592G>T GRCh38
NC_000006.11:g.150719728G>T , CM000668.1:g.150719728G>T GRCh37
NC_000006.10:g.150761421G>T NCBI36
NG_016007.1:g.34701G>T
NG_016007.2:g.34701G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*355G>T MANE Select ENSP00000343763.4:n.*355G>T
ENST00000229447.9:c.*455G>T ENSP00000229447.5:n.*455G>T
ENST00000344419.7:c.*355G>T ENSP00000343763.3:n.*355G>T
NM_001164694.1:c.*455G>T NP_001158166.1:n.*455G>T
NM_001164695.1:c.*542G>T NP_001158167.1:n.*542G>T
NM_203395.2:c.*355G>T NP_981932.1:n.*355G>T
NM_001318495.1:c.*355G>T NP_001305424.1:n.*355G>T
NR_134655.1:n.1538G>T
NM_001164694.2:c.*455G>T NP_001158166.1:n.*455G>T
NM_001164695.2:c.*542G>T NP_001158167.1:n.*542G>T
NM_001318495.2:c.*355G>T NP_001305424.1:n.*355G>T
NM_203395.3:c.*355G>T MANE Select NP_981932.1:n.*355G>T
NR_134655.2:n.1418G>T