Canonical Allele Identifier: CA2680762591

Gene: IYD

Linked Data

• gnomAD v4: 6-150398869-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398869C>G , CM000668.2:g.150398869C>G	GRCh38
NC_000006.11:g.150720005C>G , CM000668.1:g.150720005C>G	GRCh37
NC_000006.10:g.150761698C>G	NCBI36
NG_016007.1:g.34978C>G
NG_016007.2:g.34978C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*632C>G MANE Select	ENSP00000343763.4:n.*632C>G
ENST00000229447.9:c.*732C>G	ENSP00000229447.5:n.*732C>G
ENST00000344419.7:c.*632C>G	ENSP00000343763.3:n.*632C>G
NM_001164694.1:c.*732C>G	NP_001158166.1:n.*732C>G
NM_001164695.1:c.*819C>G	NP_001158167.1:n.*819C>G
NM_203395.2:c.*632C>G	NP_981932.1:n.*632C>G
NM_001318495.1:c.*632C>G	NP_001305424.1:n.*632C>G
NR_134655.1:n.1815C>G
NM_001164694.2:c.*732C>G	NP_001158166.1:n.*732C>G
NM_001164695.2:c.*819C>G	NP_001158167.1:n.*819C>G
NM_001318495.2:c.*632C>G	NP_001305424.1:n.*632C>G
NM_203395.3:c.*632C>G MANE Select	NP_981932.1:n.*632C>G
NR_134655.2:n.1695C>G