Canonical Allele Identifier: CA2773539414
Gene: IYD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150399002C>G , CM000668.2:g.150399002C>G GRCh38
NC_000006.11:g.150720138C>G , CM000668.1:g.150720138C>G GRCh37
NC_000006.10:g.150761831C>G NCBI36
NG_016007.1:g.35111C>G
NG_016007.2:g.35111C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*765C>G MANE Select ENSP00000343763.4:n.*765C>G
ENST00000229447.9:c.*865C>G ENSP00000229447.5:n.*865C>G
ENST00000344419.7:c.*765C>G ENSP00000343763.3:n.*765C>G
NM_001164694.1:c.*865C>G NP_001158166.1:n.*865C>G
NM_001164695.1:c.*952C>G NP_001158167.1:n.*952C>G
NM_203395.2:c.*765C>G NP_981932.1:n.*765C>G
NM_001318495.1:c.*765C>G NP_001305424.1:n.*765C>G
NR_134655.1:n.1948C>G
NM_001164694.2:c.*865C>G NP_001158166.1:n.*865C>G
NM_001164695.2:c.*952C>G NP_001158167.1:n.*952C>G
NM_001318495.2:c.*765C>G NP_001305424.1:n.*765C>G
NM_203395.3:c.*765C>G MANE Select NP_981932.1:n.*765C>G
NR_134655.2:n.1828C>G