Canonical Allele Identifier: CA366030108

Gene: IYD

Linked Data

• gnomAD v4: 6-150389413-C-A
• MyVariant Identifiers: chr6:g.150710549C>A (hg19) ; chr6:g.150389413C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389413C>A , CM000668.2:g.150389413C>A	GRCh38
NC_000006.11:g.150710549C>A , CM000668.1:g.150710549C>A	GRCh37
NC_000006.10:g.150752242C>A	NCBI36
NG_016007.1:g.25522C>A
NG_016007.2:g.25522C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.240C>A MANE Select	ENSP00000343763.4:p.His80Gln
ENST00000229447.9:c.240C>A	ENSP00000229447.5:p.His80Gln
ENST00000344419.7:c.240C>A	ENSP00000343763.3:p.His80Gln
ENST00000367335.7:c.240C>A	ENSP00000356304.3:p.His80Gln
ENST00000392255.7:c.240C>A	ENSP00000376084.3:p.His80Gln
ENST00000392256.6:c.240C>A	ENSP00000376085.2:p.His80Gln
ENST00000422583.2:c.117C>A	ENSP00000397342.2:p.His39Gln
ENST00000425615.3:c.75C>A	ENSP00000390081.3:p.His25Gln
ENST00000500320.7:c.240C>A	ENSP00000441276.1:p.His80Gln
ENST00000546121.1:n.183C>A
NM_001164694.1:c.240C>A	NP_001158166.1:p.His80Gln
NM_001164695.1:c.240C>A	NP_001158167.1:p.His80Gln
NM_203395.2:c.240C>A	NP_981932.1:p.His80Gln
XM_006715478.2:c.240C>A	XP_006715541.1:p.His80Gln
XM_006715479.2:c.75C>A	XP_006715542.1:p.His25Gln
XR_245516.3:n.403C>A
NM_001318495.1:c.62C>A	NP_001305424.1:p.Thr21Asn
NR_134655.1:n.380C>A
XM_006715478.3:c.240C>A	XP_006715541.1:p.His80Gln
XM_006715479.3:c.75C>A	XP_006715542.1:p.His25Gln
NM_001164694.2:c.240C>A	NP_001158166.1:p.His80Gln
NM_001164695.2:c.240C>A	NP_001158167.1:p.His80Gln
NM_001318495.2:c.62C>A	NP_001305424.1:p.Thr21Asn
NM_203395.3:c.240C>A MANE Select	NP_981932.1:p.His80Gln
NR_134655.2:n.260C>A