Canonical Allele Identifier: CA2680762437

Gene: IYD

Linked Data

• gnomAD v4: 6-150398705-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398705C>T , CM000668.2:g.150398705C>T	GRCh38
NC_000006.11:g.150719841C>T , CM000668.1:g.150719841C>T	GRCh37
NC_000006.10:g.150761534C>T	NCBI36
NG_016007.1:g.34814C>T
NG_016007.2:g.34814C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*468C>T MANE Select	ENSP00000343763.4:n.*468C>T
ENST00000229447.9:c.*568C>T	ENSP00000229447.5:n.*568C>T
ENST00000344419.7:c.*468C>T	ENSP00000343763.3:n.*468C>T
NM_001164694.1:c.*568C>T	NP_001158166.1:n.*568C>T
NM_001164695.1:c.*655C>T	NP_001158167.1:n.*655C>T
NM_203395.2:c.*468C>T	NP_981932.1:n.*468C>T
NM_001318495.1:c.*468C>T	NP_001305424.1:n.*468C>T
NR_134655.1:n.1651C>T
NM_001164694.2:c.*568C>T	NP_001158166.1:n.*568C>T
NM_001164695.2:c.*655C>T	NP_001158167.1:n.*655C>T
NM_001318495.2:c.*468C>T	NP_001305424.1:n.*468C>T
NM_203395.3:c.*468C>T MANE Select	NP_981932.1:n.*468C>T
NR_134655.2:n.1531C>T