Canonical Allele Identifier: CA2680762636

Gene: IYD

Linked Data

• gnomAD v4: 6-150398917-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398917T>C , CM000668.2:g.150398917T>C	GRCh38
NC_000006.11:g.150720053T>C , CM000668.1:g.150720053T>C	GRCh37
NC_000006.10:g.150761746T>C	NCBI36
NG_016007.1:g.35026T>C
NG_016007.2:g.35026T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*680T>C MANE Select	ENSP00000343763.4:n.*680T>C
ENST00000229447.9:c.*780T>C	ENSP00000229447.5:n.*780T>C
ENST00000344419.7:c.*680T>C	ENSP00000343763.3:n.*680T>C
NM_001164694.1:c.*780T>C	NP_001158166.1:n.*780T>C
NM_001164695.1:c.*867T>C	NP_001158167.1:n.*867T>C
NM_203395.2:c.*680T>C	NP_981932.1:n.*680T>C
NM_001318495.1:c.*680T>C	NP_001305424.1:n.*680T>C
NR_134655.1:n.1863T>C
NM_001164694.2:c.*780T>C	NP_001158166.1:n.*780T>C
NM_001164695.2:c.*867T>C	NP_001158167.1:n.*867T>C
NM_001318495.2:c.*680T>C	NP_001305424.1:n.*680T>C
NM_203395.3:c.*680T>C MANE Select	NP_981932.1:n.*680T>C
NR_134655.2:n.1743T>C