Canonical Allele Identifier: CA2680762445

Gene: IYD

Linked Data

• gnomAD v4: 6-150398714-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398714C>A , CM000668.2:g.150398714C>A	GRCh38
NC_000006.11:g.150719850C>A , CM000668.1:g.150719850C>A	GRCh37
NC_000006.10:g.150761543C>A	NCBI36
NG_016007.1:g.34823C>A
NG_016007.2:g.34823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*477C>A MANE Select	ENSP00000343763.4:n.*477C>A
ENST00000229447.9:c.*577C>A	ENSP00000229447.5:n.*577C>A
ENST00000344419.7:c.*477C>A	ENSP00000343763.3:n.*477C>A
NM_001164694.1:c.*577C>A	NP_001158166.1:n.*577C>A
NM_001164695.1:c.*664C>A	NP_001158167.1:n.*664C>A
NM_203395.2:c.*477C>A	NP_981932.1:n.*477C>A
NM_001318495.1:c.*477C>A	NP_001305424.1:n.*477C>A
NR_134655.1:n.1660C>A
NM_001164694.2:c.*577C>A	NP_001158166.1:n.*577C>A
NM_001164695.2:c.*664C>A	NP_001158167.1:n.*664C>A
NM_001318495.2:c.*477C>A	NP_001305424.1:n.*477C>A
NM_203395.3:c.*477C>A MANE Select	NP_981932.1:n.*477C>A
NR_134655.2:n.1540C>A