Canonical Allele Identifier: CA4046997

Gene: IYD

Linked Data

• dbSNP Id: rs757276785
• ExAC: 6:150710719 C / A
• gnomAD v2: 6-150710719-C-A
• gnomAD v3: 6-150389583-C-A
• gnomAD v4: 6-150389583-C-A
• MyVariant Identifiers: chr6:g.150710719C>A (hg19) ; chr6:g.150389583C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389583C>A , CM000668.2:g.150389583C>A	GRCh38
NC_000006.11:g.150710719C>A , CM000668.1:g.150710719C>A	GRCh37
NC_000006.10:g.150752412C>A	NCBI36
NG_016007.1:g.25692C>A
NG_016007.2:g.25692C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.370+40C>A MANE Select	ENSP00000343763.4:n.370+40C>A
ENST00000229447.9:c.370+40C>A	ENSP00000229447.5:n.370+40C>A
ENST00000344419.7:c.370+40C>A	ENSP00000343763.3:n.370+40C>A
ENST00000367335.7:c.370+40C>A	ENSP00000356304.3:n.370+40C>A
ENST00000392255.7:c.370+40C>A	ENSP00000376084.3:n.370+40C>A
ENST00000392256.6:c.370+40C>A	ENSP00000376085.2:n.370+40C>A
ENST00000422583.2:c.179+108C>A	ENSP00000397342.2:n.179+108C>A
ENST00000425615.3:c.205+40C>A	ENSP00000390081.3:n.205+40C>A
ENST00000500320.7:c.370+40C>A	ENSP00000441276.1:n.370+40C>A
ENST00000546121.1:n.353C>A
NM_001164694.1:c.370+40C>A	NP_001158166.1:n.370+40C>A
NM_001164695.1:c.370+40C>A	NP_001158167.1:n.370+40C>A
NM_203395.2:c.370+40C>A	NP_981932.1:n.370+40C>A
XM_006715478.2:c.370+40C>A	XP_006715541.1:n.370+40C>A
XM_006715479.2:c.205+40C>A	XP_006715542.1:n.205+40C>A
XR_245516.3:n.533+40C>A
NM_001318495.1:c.124+108C>A	NP_001305424.1:n.124+108C>A
NR_134655.1:n.510+40C>A
XM_006715478.3:c.370+40C>A	XP_006715541.1:n.370+40C>A
XM_006715479.3:c.205+40C>A	XP_006715542.1:n.205+40C>A
NM_001164694.2:c.370+40C>A	NP_001158166.1:n.370+40C>A
NM_001164695.2:c.370+40C>A	NP_001158167.1:n.370+40C>A
NM_001318495.2:c.124+108C>A	NP_001305424.1:n.124+108C>A
NM_203395.3:c.370+40C>A MANE Select	NP_981932.1:n.370+40C>A
NR_134655.2:n.390+40C>A