Canonical Allele Identifier: CA2680762690
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398960G>T , CM000668.2:g.150398960G>T GRCh38
NC_000006.11:g.150720096G>T , CM000668.1:g.150720096G>T GRCh37
NC_000006.10:g.150761789G>T NCBI36
NG_016007.1:g.35069G>T
NG_016007.2:g.35069G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*723G>T MANE Select ENSP00000343763.4:n.*723G>T
ENST00000229447.9:c.*823G>T ENSP00000229447.5:n.*823G>T
ENST00000344419.7:c.*723G>T ENSP00000343763.3:n.*723G>T
NM_001164694.1:c.*823G>T NP_001158166.1:n.*823G>T
NM_001164695.1:c.*910G>T NP_001158167.1:n.*910G>T
NM_203395.2:c.*723G>T NP_981932.1:n.*723G>T
NM_001318495.1:c.*723G>T NP_001305424.1:n.*723G>T
NR_134655.1:n.1906G>T
NM_001164694.2:c.*823G>T NP_001158166.1:n.*823G>T
NM_001164695.2:c.*910G>T NP_001158167.1:n.*910G>T
NM_001318495.2:c.*723G>T NP_001305424.1:n.*723G>T
NM_203395.3:c.*723G>T MANE Select NP_981932.1:n.*723G>T
NR_134655.2:n.1786G>T