Canonical Allele Identifier: CA2680762600
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398877A>C , CM000668.2:g.150398877A>C GRCh38
NC_000006.11:g.150720013A>C , CM000668.1:g.150720013A>C GRCh37
NC_000006.10:g.150761706A>C NCBI36
NG_016007.1:g.34986A>C
NG_016007.2:g.34986A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*640A>C MANE Select ENSP00000343763.4:n.*640A>C
ENST00000229447.9:c.*740A>C ENSP00000229447.5:n.*740A>C
ENST00000344419.7:c.*640A>C ENSP00000343763.3:n.*640A>C
NM_001164694.1:c.*740A>C NP_001158166.1:n.*740A>C
NM_001164695.1:c.*827A>C NP_001158167.1:n.*827A>C
NM_203395.2:c.*640A>C NP_981932.1:n.*640A>C
NM_001318495.1:c.*640A>C NP_001305424.1:n.*640A>C
NR_134655.1:n.1823A>C
NM_001164694.2:c.*740A>C NP_001158166.1:n.*740A>C
NM_001164695.2:c.*827A>C NP_001158167.1:n.*827A>C
NM_001318495.2:c.*640A>C NP_001305424.1:n.*640A>C
NM_203395.3:c.*640A>C MANE Select NP_981932.1:n.*640A>C
NR_134655.2:n.1703A>C