Canonical Allele Identifier: CA2680762365
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398603A>T , CM000668.2:g.150398603A>T GRCh38
NC_000006.11:g.150719739A>T , CM000668.1:g.150719739A>T GRCh37
NC_000006.10:g.150761432A>T NCBI36
NG_016007.1:g.34712A>T
NG_016007.2:g.34712A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*366A>T MANE Select ENSP00000343763.4:n.*366A>T
ENST00000229447.9:c.*466A>T ENSP00000229447.5:n.*466A>T
ENST00000344419.7:c.*366A>T ENSP00000343763.3:n.*366A>T
NM_001164694.1:c.*466A>T NP_001158166.1:n.*466A>T
NM_001164695.1:c.*553A>T NP_001158167.1:n.*553A>T
NM_203395.2:c.*366A>T NP_981932.1:n.*366A>T
NM_001318495.1:c.*366A>T NP_001305424.1:n.*366A>T
NR_134655.1:n.1549A>T
NM_001164694.2:c.*466A>T NP_001158166.1:n.*466A>T
NM_001164695.2:c.*553A>T NP_001158167.1:n.*553A>T
NM_001318495.2:c.*366A>T NP_001305424.1:n.*366A>T
NM_203395.3:c.*366A>T MANE Select NP_981932.1:n.*366A>T
NR_134655.2:n.1429A>T