Canonical Allele Identifier: CA2773539413
Gene: IYD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398999C>T , CM000668.2:g.150398999C>T GRCh38
NC_000006.11:g.150720135C>T , CM000668.1:g.150720135C>T GRCh37
NC_000006.10:g.150761828C>T NCBI36
NG_016007.1:g.35108C>T
NG_016007.2:g.35108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*762C>T MANE Select ENSP00000343763.4:n.*762C>T
ENST00000229447.9:c.*862C>T ENSP00000229447.5:n.*862C>T
ENST00000344419.7:c.*762C>T ENSP00000343763.3:n.*762C>T
NM_001164694.1:c.*862C>T NP_001158166.1:n.*862C>T
NM_001164695.1:c.*949C>T NP_001158167.1:n.*949C>T
NM_203395.2:c.*762C>T NP_981932.1:n.*762C>T
NM_001318495.1:c.*762C>T NP_001305424.1:n.*762C>T
NR_134655.1:n.1945C>T
NM_001164694.2:c.*862C>T NP_001158166.1:n.*862C>T
NM_001164695.2:c.*949C>T NP_001158167.1:n.*949C>T
NM_001318495.2:c.*762C>T NP_001305424.1:n.*762C>T
NM_203395.3:c.*762C>T MANE Select NP_981932.1:n.*762C>T
NR_134655.2:n.1825C>T