Canonical Allele Identifier: CA1672406142
Gene: IYD HGNC NCBI

Linked Data

dbSNP Id: rs1778424382

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398922C>T , CM000668.2:g.150398922C>T GRCh38
NC_000006.11:g.150720058C>T , CM000668.1:g.150720058C>T GRCh37
NC_000006.10:g.150761751C>T NCBI36
NG_016007.1:g.35031C>T
NG_016007.2:g.35031C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*685C>T MANE Select ENSP00000343763.4:n.*685C>T
ENST00000229447.9:c.*785C>T ENSP00000229447.5:n.*785C>T
ENST00000344419.7:c.*685C>T ENSP00000343763.3:n.*685C>T
NM_001164694.1:c.*785C>T NP_001158166.1:n.*785C>T
NM_001164695.1:c.*872C>T NP_001158167.1:n.*872C>T
NM_203395.2:c.*685C>T NP_981932.1:n.*685C>T
NM_001318495.1:c.*685C>T NP_001305424.1:n.*685C>T
NR_134655.1:n.1868C>T
NM_001164694.2:c.*785C>T NP_001158166.1:n.*785C>T
NM_001164695.2:c.*872C>T NP_001158167.1:n.*872C>T
NM_001318495.2:c.*685C>T NP_001305424.1:n.*685C>T
NM_203395.3:c.*685C>T MANE Select NP_981932.1:n.*685C>T
NR_134655.2:n.1748C>T