Canonical Allele Identifier: CA2680762325

Gene: IYD

Linked Data

• gnomAD v4: 6-150398586-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398586A>G , CM000668.2:g.150398586A>G	GRCh38
NC_000006.11:g.150719722A>G , CM000668.1:g.150719722A>G	GRCh37
NC_000006.10:g.150761415A>G	NCBI36
NG_016007.1:g.34695A>G
NG_016007.2:g.34695A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*349A>G MANE Select	ENSP00000343763.4:n.*349A>G
ENST00000229447.9:c.*449A>G	ENSP00000229447.5:n.*449A>G
ENST00000344419.7:c.*349A>G	ENSP00000343763.3:n.*349A>G
NM_001164694.1:c.*449A>G	NP_001158166.1:n.*449A>G
NM_001164695.1:c.*536A>G	NP_001158167.1:n.*536A>G
NM_203395.2:c.*349A>G	NP_981932.1:n.*349A>G
NM_001318495.1:c.*349A>G	NP_001305424.1:n.*349A>G
NR_134655.1:n.1532A>G
NM_001164694.2:c.*449A>G	NP_001158166.1:n.*449A>G
NM_001164695.2:c.*536A>G	NP_001158167.1:n.*536A>G
NM_001318495.2:c.*349A>G	NP_001305424.1:n.*349A>G
NM_203395.3:c.*349A>G MANE Select	NP_981932.1:n.*349A>G
NR_134655.2:n.1412A>G