Canonical Allele Identifier: CA1672405991
Gene: IYD HGNC NCBI

Linked Data

dbSNP Id: rs1778413569

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398594T>C , CM000668.2:g.150398594T>C GRCh38
NC_000006.11:g.150719730T>C , CM000668.1:g.150719730T>C GRCh37
NC_000006.10:g.150761423T>C NCBI36
NG_016007.1:g.34703T>C
NG_016007.2:g.34703T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*357T>C MANE Select ENSP00000343763.4:n.*357T>C
ENST00000229447.9:c.*457T>C ENSP00000229447.5:n.*457T>C
ENST00000344419.7:c.*357T>C ENSP00000343763.3:n.*357T>C
NM_001164694.1:c.*457T>C NP_001158166.1:n.*457T>C
NM_001164695.1:c.*544T>C NP_001158167.1:n.*544T>C
NM_203395.2:c.*357T>C NP_981932.1:n.*357T>C
NM_001318495.1:c.*357T>C NP_001305424.1:n.*357T>C
NR_134655.1:n.1540T>C
NM_001164694.2:c.*457T>C NP_001158166.1:n.*457T>C
NM_001164695.2:c.*544T>C NP_001158167.1:n.*544T>C
NM_001318495.2:c.*357T>C NP_001305424.1:n.*357T>C
NM_203395.3:c.*357T>C MANE Select NP_981932.1:n.*357T>C
NR_134655.2:n.1420T>C