Canonical Allele Identifier: CA2680762391

Gene: IYD

Linked Data

• gnomAD v4: 6-150398630-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398630A>C , CM000668.2:g.150398630A>C	GRCh38
NC_000006.11:g.150719766A>C , CM000668.1:g.150719766A>C	GRCh37
NC_000006.10:g.150761459A>C	NCBI36
NG_016007.1:g.34739A>C
NG_016007.2:g.34739A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*393A>C MANE Select	ENSP00000343763.4:n.*393A>C
ENST00000229447.9:c.*493A>C	ENSP00000229447.5:n.*493A>C
ENST00000344419.7:c.*393A>C	ENSP00000343763.3:n.*393A>C
NM_001164694.1:c.*493A>C	NP_001158166.1:n.*493A>C
NM_001164695.1:c.*580A>C	NP_001158167.1:n.*580A>C
NM_203395.2:c.*393A>C	NP_981932.1:n.*393A>C
NM_001318495.1:c.*393A>C	NP_001305424.1:n.*393A>C
NR_134655.1:n.1576A>C
NM_001164694.2:c.*493A>C	NP_001158166.1:n.*493A>C
NM_001164695.2:c.*580A>C	NP_001158167.1:n.*580A>C
NM_001318495.2:c.*393A>C	NP_001305424.1:n.*393A>C
NM_203395.3:c.*393A>C MANE Select	NP_981932.1:n.*393A>C
NR_134655.2:n.1456A>C