Canonical Allele Identifier: CA382955134
Community Standard Title: NM_006389.5(HYOU1):c.75C>G (p.Asp25Glu)
Gene: HYOU1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119056086G>C , CM000673.2:g.119056086G>C GRCh38
NC_000011.8:g.118432008G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006389.5:c.75C>G MANE Select NP_006380.1:p.Asp25Glu
ENST00000617285.5:c.75C>G MANE Select ENSP00000480150.1:p.Asp25Glu
NM_001130991.2:c.75C>G NP_001124463.1:p.Asp25Glu
NM_001130991.3:c.75C>G NP_001124463.1:p.Asp25Glu
NM_006389.4:c.75C>G NP_006380.1:p.Asp25Glu
ENST00000526354.1:n.197C>G
ENST00000526354.2:n.197C>G
ENST00000526656.5:c.75C>G ENSP00000463318.1:p.Asp25Glu
ENST00000527038.6:c.75C>G ENSP00000463742.2:p.Asp25Glu
ENST00000527038.7:c.75C>G ENSP00000463742.3:p.Asp25Glu
ENST00000529174.1:n.61-243C>G
ENST00000530467.5:c.75C>G ENSP00000479845.1:p.Asp25Glu
ENST00000530467.6:c.75C>G ENSP00000479845.2:p.Asp25Glu
ENST00000530473.5:c.75C>G ENSP00000431874.1:p.Asp25Glu
ENST00000530473.6:c.75C>G ENSP00000431874.2:p.Asp25Glu
ENST00000531968.5:c.75C>G ENSP00000464026.1:p.Asp25Glu
ENST00000532421.5:c.75C>G ENSP00000463515.1:p.Asp25Glu
ENST00000532421.6:c.75C>G ENSP00000463515.2:p.Asp25Glu
ENST00000532519.6:c.75C>G ENSP00000467866.2:p.Asp25Glu
ENST00000532519.7:c.75C>G ENSP00000467866.3:p.Asp25Glu
ENST00000533381.5:n.188C>G
ENST00000533381.6:n.188C>G
ENST00000534233.5:c.75C>G ENSP00000462951.1:p.Asp25Glu
ENST00000534233.6:c.75C>G ENSP00000462951.2:p.Asp25Glu
ENST00000543287.5:c.75C>G ENSP00000442727.2:p.Asp25Glu
ENST00000610597.1:c.75C>G ENSP00000484622.1:p.Asp25Glu
ENST00000610597.2:c.75C>G ENSP00000484622.2:p.Asp25Glu
ENST00000612687.4:c.75C>G ENSP00000483106.1:p.Asp25Glu
ENST00000614668.4:c.75C>G ENSP00000482199.1:p.Asp25Glu
ENST00000614711.4:c.75C>G ENSP00000480248.1:p.Asp25Glu
ENST00000614711.5:c.75C>G ENSP00000480248.2:p.Asp25Glu
ENST00000617285.4:c.75C>G ENSP00000480150.1:p.Asp25Glu
ENST00000621959.4:c.75C>G ENSP00000484186.1:p.Asp25Glu
ENST00000622474.4:n.175C>G
ENST00000652093.1:c.75C>G ENSP00000498353.1:p.Asp25Glu
ENST00000694929.1:n.197C>G
ENST00000694930.1:n.265C>G
ENST00000694932.1:c.75C>G ENSP00000511598.1:p.Asp25Glu
ENST00000694933.1:c.75C>G ENSP00000511599.1:p.Asp25Glu
ENST00000694934.1:c.75C>G ENSP00000511600.1:p.Asp25Glu
ENST00000694935.1:c.75C>G ENSP00000511601.1:p.Asp25Glu
ENST00000694937.1:c.75C>G ENSP00000511603.1:p.Asp25Glu
XM_005271392.2:c.75C>G XP_005271449.1:p.Asp25Glu
XM_005271392.4:c.75C>G XP_005271449.1:p.Asp25Glu
XM_005271393.2:c.75C>G XP_005271450.1:p.Asp25Glu
XM_005271393.3:c.75C>G XP_005271450.1:p.Asp25Glu
XM_005271394.2:c.75C>G XP_005271451.1:p.Asp25Glu
XM_005271394.3:c.75C>G XP_005271451.1:p.Asp25Glu
XM_011542557.1:c.207C>G XP_011540859.1:p.Asp69Glu
XM_011542558.1:c.207C>G XP_011540860.1:p.Asp69Glu
XM_017017095.1:c.75C>G XP_016872584.1:p.Asp25Glu
XM_017017096.1:c.75C>G XP_016872585.1:p.Asp25Glu
XM_017017097.1:c.75C>G XP_016872586.1:p.Asp25Glu
XR_001747729.1:n.205C>G
XR_002957117.1:n.205C>G
XR_947790.1:n.222C>G