Canonical Allele Identifier: CA2680762569

Gene: IYD

Linked Data

• gnomAD v4: 6-150398853-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398853C>T , CM000668.2:g.150398853C>T	GRCh38
NC_000006.11:g.150719989C>T , CM000668.1:g.150719989C>T	GRCh37
NC_000006.10:g.150761682C>T	NCBI36
NG_016007.1:g.34962C>T
NG_016007.2:g.34962C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*616C>T MANE Select	ENSP00000343763.4:n.*616C>T
ENST00000229447.9:c.*716C>T	ENSP00000229447.5:n.*716C>T
ENST00000344419.7:c.*616C>T	ENSP00000343763.3:n.*616C>T
NM_001164694.1:c.*716C>T	NP_001158166.1:n.*716C>T
NM_001164695.1:c.*803C>T	NP_001158167.1:n.*803C>T
NM_203395.2:c.*616C>T	NP_981932.1:n.*616C>T
NM_001318495.1:c.*616C>T	NP_001305424.1:n.*616C>T
NR_134655.1:n.1799C>T
NM_001164694.2:c.*716C>T	NP_001158166.1:n.*716C>T
NM_001164695.2:c.*803C>T	NP_001158167.1:n.*803C>T
NM_001318495.2:c.*616C>T	NP_001305424.1:n.*616C>T
NM_203395.3:c.*616C>T MANE Select	NP_981932.1:n.*616C>T
NR_134655.2:n.1679C>T