Canonical Allele Identifier: CA2773539402
Gene: IYD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398781C>A , CM000668.2:g.150398781C>A GRCh38
NC_000006.11:g.150719917C>A , CM000668.1:g.150719917C>A GRCh37
NC_000006.10:g.150761610C>A NCBI36
NG_016007.1:g.34890C>A
NG_016007.2:g.34890C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*544C>A MANE Select ENSP00000343763.4:n.*544C>A
ENST00000229447.9:c.*644C>A ENSP00000229447.5:n.*644C>A
ENST00000344419.7:c.*544C>A ENSP00000343763.3:n.*544C>A
NM_001164694.1:c.*644C>A NP_001158166.1:n.*644C>A
NM_001164695.1:c.*731C>A NP_001158167.1:n.*731C>A
NM_203395.2:c.*544C>A NP_981932.1:n.*544C>A
NM_001318495.1:c.*544C>A NP_001305424.1:n.*544C>A
NR_134655.1:n.1727C>A
NM_001164694.2:c.*644C>A NP_001158166.1:n.*644C>A
NM_001164695.2:c.*731C>A NP_001158167.1:n.*731C>A
NM_001318495.2:c.*544C>A NP_001305424.1:n.*544C>A
NM_203395.3:c.*544C>A MANE Select NP_981932.1:n.*544C>A
NR_134655.2:n.1607C>A