Canonical Allele Identifier: CA2773539405
Gene: IYD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398814G>A , CM000668.2:g.150398814G>A GRCh38
NC_000006.11:g.150719950G>A , CM000668.1:g.150719950G>A GRCh37
NC_000006.10:g.150761643G>A NCBI36
NG_016007.1:g.34923G>A
NG_016007.2:g.34923G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*577G>A MANE Select ENSP00000343763.4:n.*577G>A
ENST00000229447.9:c.*677G>A ENSP00000229447.5:n.*677G>A
ENST00000344419.7:c.*577G>A ENSP00000343763.3:n.*577G>A
NM_001164694.1:c.*677G>A NP_001158166.1:n.*677G>A
NM_001164695.1:c.*764G>A NP_001158167.1:n.*764G>A
NM_203395.2:c.*577G>A NP_981932.1:n.*577G>A
NM_001318495.1:c.*577G>A NP_001305424.1:n.*577G>A
NR_134655.1:n.1760G>A
NM_001164694.2:c.*677G>A NP_001158166.1:n.*677G>A
NM_001164695.2:c.*764G>A NP_001158167.1:n.*764G>A
NM_001318495.2:c.*577G>A NP_001305424.1:n.*577G>A
NM_203395.3:c.*577G>A MANE Select NP_981932.1:n.*577G>A
NR_134655.2:n.1640G>A