Canonical Allele Identifier: CA2680762335

Gene: IYD

Linked Data

• gnomAD v4: 6-150398590-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398590C>G , CM000668.2:g.150398590C>G	GRCh38
NC_000006.11:g.150719726C>G , CM000668.1:g.150719726C>G	GRCh37
NC_000006.10:g.150761419C>G	NCBI36
NG_016007.1:g.34699C>G
NG_016007.2:g.34699C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*353C>G MANE Select	ENSP00000343763.4:n.*353C>G
ENST00000229447.9:c.*453C>G	ENSP00000229447.5:n.*453C>G
ENST00000344419.7:c.*353C>G	ENSP00000343763.3:n.*353C>G
NM_001164694.1:c.*453C>G	NP_001158166.1:n.*453C>G
NM_001164695.1:c.*540C>G	NP_001158167.1:n.*540C>G
NM_203395.2:c.*353C>G	NP_981932.1:n.*353C>G
NM_001318495.1:c.*353C>G	NP_001305424.1:n.*353C>G
NR_134655.1:n.1536C>G
NM_001164694.2:c.*453C>G	NP_001158166.1:n.*453C>G
NM_001164695.2:c.*540C>G	NP_001158167.1:n.*540C>G
NM_001318495.2:c.*353C>G	NP_001305424.1:n.*353C>G
NM_203395.3:c.*353C>G MANE Select	NP_981932.1:n.*353C>G
NR_134655.2:n.1416C>G