Canonical Allele Identifier: CA1095800213

Gene: IYD

Linked Data

• dbSNP Id: rs1778415239
• gnomAD v3: 6-150398659-C-A
• gnomAD v4: 6-150398659-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398659C>A , CM000668.2:g.150398659C>A	GRCh38
NC_000006.11:g.150719795C>A , CM000668.1:g.150719795C>A	GRCh37
NC_000006.10:g.150761488C>A	NCBI36
NG_016007.1:g.34768C>A
NG_016007.2:g.34768C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*422C>A MANE Select	ENSP00000343763.4:n.*422C>A
ENST00000229447.9:c.*522C>A	ENSP00000229447.5:n.*522C>A
ENST00000344419.7:c.*422C>A	ENSP00000343763.3:n.*422C>A
NM_001164694.1:c.*522C>A	NP_001158166.1:n.*522C>A
NM_001164695.1:c.*609C>A	NP_001158167.1:n.*609C>A
NM_203395.2:c.*422C>A	NP_981932.1:n.*422C>A
NM_001318495.1:c.*422C>A	NP_001305424.1:n.*422C>A
NR_134655.1:n.1605C>A
NM_001164694.2:c.*522C>A	NP_001158166.1:n.*522C>A
NM_001164695.2:c.*609C>A	NP_001158167.1:n.*609C>A
NM_001318495.2:c.*422C>A	NP_001305424.1:n.*422C>A
NM_203395.3:c.*422C>A MANE Select	NP_981932.1:n.*422C>A
NR_134655.2:n.1485C>A