Canonical Allele Identifier: CA229623603

Gene: HYOU1

Linked Data

• ClinVar Variation Id: 2391432
• ClinVar RCV Id: RCV002704340
• dbSNP Id: rs578015923 ; rs2133595090
• gnomAD v3: 11-119052725-C-A
• gnomAD v4: 11-119052725-C-A
• MyVariant Identifiers: chr11:g.119052725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119052725C>A , CM000673.2:g.119052725C>A	GRCh38
NC_000011.8:g.118428647C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000527038.7:c.899G>T	ENSP00000463742.3:p.Arg300Leu
ENST00000530467.6:c.899G>T	ENSP00000479845.2:p.Arg300Leu
ENST00000530473.6:c.899G>T	ENSP00000431874.2:p.Arg300Leu
ENST00000532421.6:c.899G>T	ENSP00000463515.2:p.Arg300Leu
ENST00000532519.7:c.899G>T	ENSP00000467866.3:p.Arg300Leu
ENST00000533381.6:n.1136G>T
ENST00000534233.6:c.899G>T	ENSP00000462951.2:p.Arg300Leu
ENST00000610597.2:c.899G>T	ENSP00000484622.2:p.Arg300Leu
ENST00000614711.5:c.899G>T	ENSP00000480248.2:p.Arg300Leu
ENST00000694929.1:n.1453G>T
ENST00000694930.1:n.1089G>T
ENST00000694932.1:c.899G>T	ENSP00000511598.1:p.Arg300Leu
ENST00000694933.1:c.899G>T	ENSP00000511599.1:p.Arg300Leu
ENST00000694934.1:c.899G>T	ENSP00000511600.1:p.Arg300Leu
ENST00000694935.1:c.899G>T	ENSP00000511601.1:p.Arg300Leu
ENST00000694937.1:c.*418G>T	ENSP00000511603.1:n.*418G>T
ENST00000617285.5:c.899G>T MANE Select	ENSP00000480150.1:p.Arg300Leu
ENST00000652093.1:c.899G>T	ENSP00000498353.1:p.Arg300Leu
ENST00000530473.5:c.899G>T	ENSP00000431874.1:p.Arg300Leu
ENST00000531694.5:n.2005G>T
ENST00000532519.6:c.899G>T	ENSP00000467866.2:p.Arg300Leu
ENST00000543287.5:c.*688G>T	ENSP00000442727.2:n.*688G>T
ENST00000612687.4:c.899G>T	ENSP00000483106.1:p.Arg300Leu
ENST00000614668.4:c.436+2319G>T	ENSP00000482199.1:n.436+2319G>T
ENST00000614711.4:c.899G>T	ENSP00000480248.1:p.Arg300Leu
ENST00000617285.4:c.899G>T	ENSP00000480150.1:p.Arg300Leu
ENST00000621959.4:c.899G>T	ENSP00000484186.1:p.Arg300Leu
NM_001130991.2:c.899G>T	NP_001124463.1:p.Arg300Leu
NM_006389.4:c.899G>T	NP_006380.1:p.Arg300Leu
XM_005271392.2:c.899G>T	XP_005271449.1:p.Arg300Leu
XM_005271393.2:c.899G>T	XP_005271450.1:p.Arg300Leu
XM_005271394.2:c.899G>T	XP_005271451.1:p.Arg300Leu
XM_011542557.1:c.1031G>T	XP_011540859.1:p.Arg344Leu
XM_011542558.1:c.1031G>T	XP_011540860.1:p.Arg344Leu
XR_947790.1:n.1046G>T
XM_005271392.4:c.899G>T	XP_005271449.1:p.Arg300Leu
XM_005271393.3:c.899G>T	XP_005271450.1:p.Arg300Leu
XM_005271394.3:c.899G>T	XP_005271451.1:p.Arg300Leu
XM_017017095.1:c.899G>T	XP_016872584.1:p.Arg300Leu
XM_017017096.1:c.899G>T	XP_016872585.1:p.Arg300Leu
XM_017017097.1:c.899G>T	XP_016872586.1:p.Arg300Leu
XR_001747729.1:n.1029G>T
XR_002957117.1:n.1029G>T
NM_006389.5:c.899G>T MANE Select	NP_006380.1:p.Arg300Leu
NM_001130991.3:c.899G>T	NP_001124463.1:p.Arg300Leu