Canonical Allele Identifier: CA366030432

Gene: IYD

Linked Data

• MyVariant Identifiers: chr6:g.150710596T>A (hg19) ; chr6:g.150389460T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389460T>A , CM000668.2:g.150389460T>A	GRCh38
NC_000006.11:g.150710596T>A , CM000668.1:g.150710596T>A	GRCh37
NC_000006.10:g.150752289T>A	NCBI36
NG_016007.1:g.25569T>A
NG_016007.2:g.25569T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.287T>A MANE Select	ENSP00000343763.4:p.Leu96His
ENST00000229447.9:c.287T>A	ENSP00000229447.5:p.Leu96His
ENST00000344419.7:c.287T>A	ENSP00000343763.3:p.Leu96His
ENST00000367335.7:c.287T>A	ENSP00000356304.3:p.Leu96His
ENST00000392255.7:c.287T>A	ENSP00000376084.3:p.Leu96His
ENST00000392256.6:c.287T>A	ENSP00000376085.2:p.Leu96His
ENST00000422583.2:c.164T>A	ENSP00000397342.2:p.Leu55His
ENST00000425615.3:c.122T>A	ENSP00000390081.3:p.Leu41His
ENST00000500320.7:c.287T>A	ENSP00000441276.1:p.Leu96His
ENST00000546121.1:n.230T>A
NM_001164694.1:c.287T>A	NP_001158166.1:p.Leu96His
NM_001164695.1:c.287T>A	NP_001158167.1:p.Leu96His
NM_203395.2:c.287T>A	NP_981932.1:p.Leu96His
XM_006715478.2:c.287T>A	XP_006715541.1:p.Leu96His
XM_006715479.2:c.122T>A	XP_006715542.1:p.Leu41His
XR_245516.3:n.450T>A
NM_001318495.1:c.109T>A	NP_001305424.1:p.Phe37Ile
NR_134655.1:n.427T>A
XM_006715478.3:c.287T>A	XP_006715541.1:p.Leu96His
XM_006715479.3:c.122T>A	XP_006715542.1:p.Leu41His
NM_001164694.2:c.287T>A	NP_001158166.1:p.Leu96His
NM_001164695.2:c.287T>A	NP_001158167.1:p.Leu96His
NM_001318495.2:c.109T>A	NP_001305424.1:p.Phe37Ile
NM_203395.3:c.287T>A MANE Select	NP_981932.1:p.Leu96His
NR_134655.2:n.307T>A