Canonical Allele Identifier: CA2680762465

Gene: IYD

Linked Data

• gnomAD v4: 6-150398750-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398750A>G , CM000668.2:g.150398750A>G	GRCh38
NC_000006.11:g.150719886A>G , CM000668.1:g.150719886A>G	GRCh37
NC_000006.10:g.150761579A>G	NCBI36
NG_016007.1:g.34859A>G
NG_016007.2:g.34859A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*513A>G MANE Select	ENSP00000343763.4:n.*513A>G
ENST00000229447.9:c.*613A>G	ENSP00000229447.5:n.*613A>G
ENST00000344419.7:c.*513A>G	ENSP00000343763.3:n.*513A>G
NM_001164694.1:c.*613A>G	NP_001158166.1:n.*613A>G
NM_001164695.1:c.*700A>G	NP_001158167.1:n.*700A>G
NM_203395.2:c.*513A>G	NP_981932.1:n.*513A>G
NM_001318495.1:c.*513A>G	NP_001305424.1:n.*513A>G
NR_134655.1:n.1696A>G
NM_001164694.2:c.*613A>G	NP_001158166.1:n.*613A>G
NM_001164695.2:c.*700A>G	NP_001158167.1:n.*700A>G
NM_001318495.2:c.*513A>G	NP_001305424.1:n.*513A>G
NM_203395.3:c.*513A>G MANE Select	NP_981932.1:n.*513A>G
NR_134655.2:n.1576A>G