Canonical Allele Identifier: CA2680762633
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398911T>C , CM000668.2:g.150398911T>C GRCh38
NC_000006.11:g.150720047T>C , CM000668.1:g.150720047T>C GRCh37
NC_000006.10:g.150761740T>C NCBI36
NG_016007.1:g.35020T>C
NG_016007.2:g.35020T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*674T>C MANE Select ENSP00000343763.4:n.*674T>C
ENST00000229447.9:c.*774T>C ENSP00000229447.5:n.*774T>C
ENST00000344419.7:c.*674T>C ENSP00000343763.3:n.*674T>C
NM_001164694.1:c.*774T>C NP_001158166.1:n.*774T>C
NM_001164695.1:c.*861T>C NP_001158167.1:n.*861T>C
NM_203395.2:c.*674T>C NP_981932.1:n.*674T>C
NM_001318495.1:c.*674T>C NP_001305424.1:n.*674T>C
NR_134655.1:n.1857T>C
NM_001164694.2:c.*774T>C NP_001158166.1:n.*774T>C
NM_001164695.2:c.*861T>C NP_001158167.1:n.*861T>C
NM_001318495.2:c.*674T>C NP_001305424.1:n.*674T>C
NM_203395.3:c.*674T>C MANE Select NP_981932.1:n.*674T>C
NR_134655.2:n.1737T>C