Canonical Allele Identifier: CA2773539400
Gene: IYD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398746A>C , CM000668.2:g.150398746A>C GRCh38
NC_000006.11:g.150719882A>C , CM000668.1:g.150719882A>C GRCh37
NC_000006.10:g.150761575A>C NCBI36
NG_016007.1:g.34855A>C
NG_016007.2:g.34855A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*509A>C MANE Select ENSP00000343763.4:n.*509A>C
ENST00000229447.9:c.*609A>C ENSP00000229447.5:n.*609A>C
ENST00000344419.7:c.*509A>C ENSP00000343763.3:n.*509A>C
NM_001164694.1:c.*609A>C NP_001158166.1:n.*609A>C
NM_001164695.1:c.*696A>C NP_001158167.1:n.*696A>C
NM_203395.2:c.*509A>C NP_981932.1:n.*509A>C
NM_001318495.1:c.*509A>C NP_001305424.1:n.*509A>C
NR_134655.1:n.1692A>C
NM_001164694.2:c.*609A>C NP_001158166.1:n.*609A>C
NM_001164695.2:c.*696A>C NP_001158167.1:n.*696A>C
NM_001318495.2:c.*509A>C NP_001305424.1:n.*509A>C
NM_203395.3:c.*509A>C MANE Select NP_981932.1:n.*509A>C
NR_134655.2:n.1572A>C