Canonical Allele Identifier: CA452567599

Gene: IYD

Linked Data

• dbSNP Id: rs1380120058
• gnomAD v4: 6-150389485-G-A
• MyVariant Identifiers: chr6:g.150710621G>A (hg19) ; chr6:g.150389485G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389485G>A , CM000668.2:g.150389485G>A	GRCh38
NC_000006.11:g.150710621G>A , CM000668.1:g.150710621G>A	GRCh37
NC_000006.10:g.150752314G>A	NCBI36
NG_016007.1:g.25594G>A
NG_016007.2:g.25594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.312G>A MANE Select	ENSP00000343763.4:p.Arg104=
ENST00000229447.9:c.312G>A	ENSP00000229447.5:p.Arg104=
ENST00000344419.7:c.312G>A	ENSP00000343763.3:p.Arg104=
ENST00000367335.7:c.312G>A	ENSP00000356304.3:p.Arg104=
ENST00000392255.7:c.312G>A	ENSP00000376084.3:p.Arg104=
ENST00000392256.6:c.312G>A	ENSP00000376085.2:p.Arg104=
ENST00000422583.2:c.179+10G>A	ENSP00000397342.2:n.179+10G>A
ENST00000425615.3:c.147G>A	ENSP00000390081.3:p.Arg49=
ENST00000500320.7:c.312G>A	ENSP00000441276.1:p.Arg104=
ENST00000546121.1:n.255G>A
NM_001164694.1:c.312G>A	NP_001158166.1:p.Arg104=
NM_001164695.1:c.312G>A	NP_001158167.1:p.Arg104=
NM_203395.2:c.312G>A	NP_981932.1:p.Arg104=
XM_006715478.2:c.312G>A	XP_006715541.1:p.Arg104=
XM_006715479.2:c.147G>A	XP_006715542.1:p.Arg49=
XR_245516.3:n.475G>A
NM_001318495.1:c.124+10G>A	NP_001305424.1:n.124+10G>A
NR_134655.1:n.452G>A
XM_006715478.3:c.312G>A	XP_006715541.1:p.Arg104=
XM_006715479.3:c.147G>A	XP_006715542.1:p.Arg49=
NM_001164694.2:c.312G>A	NP_001158166.1:p.Arg104=
NM_001164695.2:c.312G>A	NP_001158167.1:p.Arg104=
NM_001318495.2:c.124+10G>A	NP_001305424.1:n.124+10G>A
NM_203395.3:c.312G>A MANE Select	NP_981932.1:p.Arg104=
NR_134655.2:n.332G>A