Canonical Allele Identifier: CA1955186877
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17527035C= , CM000673.2:g.17527035C= GRCh38
NC_000011.9:g.17548582C= , CM000673.1:g.17548582C= GRCh37
NC_000011.8:g.17505158C= NCBI36
NG_011883.1:g.22382G=
NG_011883.2:g.22382G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.502G= MANE Select ENSP00000005226.7:p.Gly168=
ENST00000318024.9:c.502G= MANE Plus Clinical ENSP00000317018.4:p.Gly168=
ENST00000005226.11:c.502G= ENSP00000005226.7:p.Gly168=
ENST00000318024.8:c.502G= ENSP00000317018.4:p.Gly168=
ENST00000526181.1:c.535G= ENSP00000437128.1:p.Gly179=
ENST00000526313.5:c.502G= ENSP00000432236.1:p.Gly168=
ENST00000527020.5:c.502G= ENSP00000436934.1:p.Gly168=
ENST00000527720.5:c.409G= ENSP00000432944.1:p.Gly137=
NM_001297764.1:c.502G= NP_001284693.1:p.Gly168=
NM_005709.3:c.502G= NP_005700.2:p.Gly168=
NM_153676.3:c.502G= NP_710142.1:p.Gly168=
NR_123738.1:n.611G=
XM_011519831.1:c.502G= XP_011518133.1:p.Gly168=
XM_011519832.1:c.502G= XP_011518134.1:p.Gly168=
XM_011519833.1:c.502G= XP_011518135.1:p.Gly168=
XM_011519834.1:c.502G= XP_011518136.1:p.Gly168=
XR_930841.1:n.611G=
XR_930842.1:n.611G=
XM_011519832.3:c.502G= XP_011518134.1:p.Gly168=
XM_011519834.2:c.502G= XP_011518136.1:p.Gly168=
XM_017017072.1:c.502G= XP_016872561.1:p.Gly168=
XM_017017073.1:c.502G= XP_016872562.1:p.Gly168=
XM_017017074.1:c.502G= XP_016872563.1:p.Gly168=
XM_017017075.1:c.502G= XP_016872564.1:p.Gly168=
XR_001747717.2:n.611G=
NM_153676.4:c.502G= MANE Select NP_710142.1:p.Gly168=
NM_001297764.2:c.502G= NP_001284693.1:p.Gly168=
NM_005709.4:c.502G= MANE Plus Clinical NP_005700.2:p.Gly168=
NR_123738.2:n.611G=