Canonical Allele Identifier: CA2680762330
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398588T>G , CM000668.2:g.150398588T>G GRCh38
NC_000006.11:g.150719724T>G , CM000668.1:g.150719724T>G GRCh37
NC_000006.10:g.150761417T>G NCBI36
NG_016007.1:g.34697T>G
NG_016007.2:g.34697T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*351T>G MANE Select ENSP00000343763.4:n.*351T>G
ENST00000229447.9:c.*451T>G ENSP00000229447.5:n.*451T>G
ENST00000344419.7:c.*351T>G ENSP00000343763.3:n.*351T>G
NM_001164694.1:c.*451T>G NP_001158166.1:n.*451T>G
NM_001164695.1:c.*538T>G NP_001158167.1:n.*538T>G
NM_203395.2:c.*351T>G NP_981932.1:n.*351T>G
NM_001318495.1:c.*351T>G NP_001305424.1:n.*351T>G
NR_134655.1:n.1534T>G
NM_001164694.2:c.*451T>G NP_001158166.1:n.*451T>G
NM_001164695.2:c.*538T>G NP_001158167.1:n.*538T>G
NM_001318495.2:c.*351T>G NP_001305424.1:n.*351T>G
NM_203395.3:c.*351T>G MANE Select NP_981932.1:n.*351T>G
NR_134655.2:n.1414T>G