Canonical Allele Identifier: CA2680762315

Gene: IYD

Linked Data

• gnomAD v4: 6-150398582-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398582C>G , CM000668.2:g.150398582C>G	GRCh38
NC_000006.11:g.150719718C>G , CM000668.1:g.150719718C>G	GRCh37
NC_000006.10:g.150761411C>G	NCBI36
NG_016007.1:g.34691C>G
NG_016007.2:g.34691C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*345C>G MANE Select	ENSP00000343763.4:n.*345C>G
ENST00000229447.9:c.*445C>G	ENSP00000229447.5:n.*445C>G
ENST00000344419.7:c.*345C>G	ENSP00000343763.3:n.*345C>G
NM_001164694.1:c.*445C>G	NP_001158166.1:n.*445C>G
NM_001164695.1:c.*532C>G	NP_001158167.1:n.*532C>G
NM_203395.2:c.*345C>G	NP_981932.1:n.*345C>G
NM_001318495.1:c.*345C>G	NP_001305424.1:n.*345C>G
NR_134655.1:n.1528C>G
NM_001164694.2:c.*445C>G	NP_001158166.1:n.*445C>G
NM_001164695.2:c.*532C>G	NP_001158167.1:n.*532C>G
NM_001318495.2:c.*345C>G	NP_001305424.1:n.*345C>G
NM_203395.3:c.*345C>G MANE Select	NP_981932.1:n.*345C>G
NR_134655.2:n.1408C>G