Canonical Allele Identifier: CA2680762370
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398608A>T , CM000668.2:g.150398608A>T GRCh38
NC_000006.11:g.150719744A>T , CM000668.1:g.150719744A>T GRCh37
NC_000006.10:g.150761437A>T NCBI36
NG_016007.1:g.34717A>T
NG_016007.2:g.34717A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*371A>T MANE Select ENSP00000343763.4:n.*371A>T
ENST00000229447.9:c.*471A>T ENSP00000229447.5:n.*471A>T
ENST00000344419.7:c.*371A>T ENSP00000343763.3:n.*371A>T
NM_001164694.1:c.*471A>T NP_001158166.1:n.*471A>T
NM_001164695.1:c.*558A>T NP_001158167.1:n.*558A>T
NM_203395.2:c.*371A>T NP_981932.1:n.*371A>T
NM_001318495.1:c.*371A>T NP_001305424.1:n.*371A>T
NR_134655.1:n.1554A>T
NM_001164694.2:c.*471A>T NP_001158166.1:n.*471A>T
NM_001164695.2:c.*558A>T NP_001158167.1:n.*558A>T
NM_001318495.2:c.*371A>T NP_001305424.1:n.*371A>T
NM_203395.3:c.*371A>T MANE Select NP_981932.1:n.*371A>T
NR_134655.2:n.1434A>T