Canonical Allele Identifier: CA1095800400

Gene: IYD

Linked Data

• dbSNP Id: rs1219071882
• gnomAD v3: 6-150399024-C-T
• gnomAD v4: 6-150399024-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150399024C>T , CM000668.2:g.150399024C>T	GRCh38
NC_000006.11:g.150720160C>T , CM000668.1:g.150720160C>T	GRCh37
NC_000006.10:g.150761853C>T	NCBI36
NG_016007.1:g.35133C>T
NG_016007.2:g.35133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*787C>T MANE Select	ENSP00000343763.4:n.*787C>T
ENST00000229447.9:c.*887C>T	ENSP00000229447.5:n.*887C>T
ENST00000344419.7:c.*787C>T	ENSP00000343763.3:n.*787C>T
NM_001164694.1:c.*887C>T	NP_001158166.1:n.*887C>T
NM_001164695.1:c.*974C>T	NP_001158167.1:n.*974C>T
NM_203395.2:c.*787C>T	NP_981932.1:n.*787C>T
NM_001318495.1:c.*787C>T	NP_001305424.1:n.*787C>T
NR_134655.1:n.1970C>T
NM_001164694.2:c.*887C>T	NP_001158166.1:n.*887C>T
NM_001164695.2:c.*974C>T	NP_001158167.1:n.*974C>T
NM_001318495.2:c.*787C>T	NP_001305424.1:n.*787C>T
NM_203395.3:c.*787C>T MANE Select	NP_981932.1:n.*787C>T
NR_134655.2:n.1850C>T