Canonical Allele Identifier: CA2680762421

Gene: IYD

Linked Data

• gnomAD v4: 6-150398680-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398680G>C , CM000668.2:g.150398680G>C	GRCh38
NC_000006.11:g.150719816G>C , CM000668.1:g.150719816G>C	GRCh37
NC_000006.10:g.150761509G>C	NCBI36
NG_016007.1:g.34789G>C
NG_016007.2:g.34789G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*443G>C MANE Select	ENSP00000343763.4:n.*443G>C
ENST00000229447.9:c.*543G>C	ENSP00000229447.5:n.*543G>C
ENST00000344419.7:c.*443G>C	ENSP00000343763.3:n.*443G>C
NM_001164694.1:c.*543G>C	NP_001158166.1:n.*543G>C
NM_001164695.1:c.*630G>C	NP_001158167.1:n.*630G>C
NM_203395.2:c.*443G>C	NP_981932.1:n.*443G>C
NM_001318495.1:c.*443G>C	NP_001305424.1:n.*443G>C
NR_134655.1:n.1626G>C
NM_001164694.2:c.*543G>C	NP_001158166.1:n.*543G>C
NM_001164695.2:c.*630G>C	NP_001158167.1:n.*630G>C
NM_001318495.2:c.*443G>C	NP_001305424.1:n.*443G>C
NM_203395.3:c.*443G>C MANE Select	NP_981932.1:n.*443G>C
NR_134655.2:n.1506G>C