Canonical Allele Identifier: CA2680762380
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398619A>T , CM000668.2:g.150398619A>T GRCh38
NC_000006.11:g.150719755A>T , CM000668.1:g.150719755A>T GRCh37
NC_000006.10:g.150761448A>T NCBI36
NG_016007.1:g.34728A>T
NG_016007.2:g.34728A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*382A>T MANE Select ENSP00000343763.4:n.*382A>T
ENST00000229447.9:c.*482A>T ENSP00000229447.5:n.*482A>T
ENST00000344419.7:c.*382A>T ENSP00000343763.3:n.*382A>T
NM_001164694.1:c.*482A>T NP_001158166.1:n.*482A>T
NM_001164695.1:c.*569A>T NP_001158167.1:n.*569A>T
NM_203395.2:c.*382A>T NP_981932.1:n.*382A>T
NM_001318495.1:c.*382A>T NP_001305424.1:n.*382A>T
NR_134655.1:n.1565A>T
NM_001164694.2:c.*482A>T NP_001158166.1:n.*482A>T
NM_001164695.2:c.*569A>T NP_001158167.1:n.*569A>T
NM_001318495.2:c.*382A>T NP_001305424.1:n.*382A>T
NM_203395.3:c.*382A>T MANE Select NP_981932.1:n.*382A>T
NR_134655.2:n.1445A>T