Canonical Allele Identifier: CA2616345241

Gene: HYOU1

Linked Data

• gnomAD v4: 11-119052610-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119052610T>G , CM000673.2:g.119052610T>G	GRCh38
NC_000011.8:g.118428532T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000527038.7:c.987+27A>C	ENSP00000463742.3:n.987+27A>C
ENST00000530467.6:c.987+27A>C	ENSP00000479845.2:n.987+27A>C
ENST00000530473.6:c.987+27A>C	ENSP00000431874.2:n.987+27A>C
ENST00000532421.6:c.987+27A>C	ENSP00000463515.2:n.987+27A>C
ENST00000532519.7:c.987+27A>C	ENSP00000467866.3:n.987+27A>C
ENST00000533381.6:n.1224+27A>C
ENST00000534233.6:c.987+27A>C	ENSP00000462951.2:n.987+27A>C
ENST00000610597.2:c.987+27A>C	ENSP00000484622.2:n.987+27A>C
ENST00000614711.5:c.987+27A>C	ENSP00000480248.2:n.987+27A>C
ENST00000694929.1:n.1541+27A>C
ENST00000694930.1:n.1177+27A>C
ENST00000694932.1:c.987+27A>C	ENSP00000511598.1:n.987+27A>C
ENST00000694933.1:c.987+27A>C	ENSP00000511599.1:n.987+27A>C
ENST00000694934.1:c.987+27A>C	ENSP00000511600.1:n.987+27A>C
ENST00000694935.1:c.987+27A>C	ENSP00000511601.1:n.987+27A>C
ENST00000694937.1:c.*506+27A>C	ENSP00000511603.1:n.*506+27A>C
ENST00000617285.5:c.987+27A>C MANE Select	ENSP00000480150.1:n.987+27A>C
ENST00000652093.1:c.987+27A>C	ENSP00000498353.1:n.987+27A>C
ENST00000530473.5:c.987+27A>C	ENSP00000431874.1:n.987+27A>C
ENST00000531694.5:n.2120A>C
ENST00000532519.6:c.987+27A>C	ENSP00000467866.2:n.987+27A>C
ENST00000543287.5:c.*776+27A>C	ENSP00000442727.2:n.*776+27A>C
ENST00000612687.4:c.987+27A>C	ENSP00000483106.1:n.987+27A>C
ENST00000614668.4:c.436+2434A>C	ENSP00000482199.1:n.436+2434A>C
ENST00000614711.4:c.987+27A>C	ENSP00000480248.1:n.987+27A>C
ENST00000617285.4:c.987+27A>C	ENSP00000480150.1:n.987+27A>C
ENST00000621959.4:c.987+27A>C	ENSP00000484186.1:n.987+27A>C
NM_001130991.2:c.987+27A>C	NP_001124463.1:n.987+27A>C
NM_006389.4:c.987+27A>C	NP_006380.1:n.987+27A>C
XM_005271392.2:c.987+27A>C	XP_005271449.1:n.987+27A>C
XM_005271393.2:c.987+27A>C	XP_005271450.1:n.987+27A>C
XM_005271394.2:c.987+27A>C	XP_005271451.1:n.987+27A>C
XM_011542557.1:c.1119+27A>C	XP_011540859.1:n.1119+27A>C
XM_011542558.1:c.1119+27A>C	XP_011540860.1:n.1119+27A>C
XR_947790.1:n.1134+27A>C
XM_005271392.4:c.987+27A>C	XP_005271449.1:n.987+27A>C
XM_005271393.3:c.987+27A>C	XP_005271450.1:n.987+27A>C
XM_005271394.3:c.987+27A>C	XP_005271451.1:n.987+27A>C
XM_017017095.1:c.987+27A>C	XP_016872584.1:n.987+27A>C
XM_017017096.1:c.987+27A>C	XP_016872585.1:n.987+27A>C
XM_017017097.1:c.987+27A>C	XP_016872586.1:n.987+27A>C
XR_001747729.1:n.1117+27A>C
XR_002957117.1:n.1117+27A>C
NM_006389.5:c.987+27A>C MANE Select	NP_006380.1:n.987+27A>C
NM_001130991.3:c.987+27A>C	NP_001124463.1:n.987+27A>C