Canonical Allele Identifier: CA1955173304
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501244A= , CM000673.2:g.17501244A= GRCh38
NC_000011.9:g.17522791A= , CM000673.1:g.17522791A= GRCh37
NC_000011.8:g.17479367A= NCBI36
NG_011883.1:g.48173T=
NG_011883.2:g.48173T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2281-94T= MANE Select ENSP00000005226.7:n.2281-94T=
ENST00000318024.9:c.1381-94T= MANE Plus Clinical ENSP00000317018.4:n.1381-94T=
ENST00000005226.11:c.2281-94T= ENSP00000005226.7:n.2281-94T=
ENST00000318024.8:c.1381-94T= ENSP00000317018.4:n.1381-94T=
ENST00000526313.5:c.*95-94T= ENSP00000432236.1:n.*95-94T=
ENST00000527020.5:c.1324-94T= ENSP00000436934.1:n.1324-94T=
ENST00000527720.5:c.1288-94T= ENSP00000432944.1:n.1288-94T=
ENST00000529563.5:n.265-94T=
ENST00000534556.1:n.166-94T=
NM_001297764.1:c.1324-94T= NP_001284693.1:n.1324-94T=
NM_005709.3:c.1381-94T= NP_005700.2:n.1381-94T=
NM_153676.3:c.2281-94T= NP_710142.1:n.2281-94T=
NR_123738.1:n.1416-94T=
XM_011519831.1:c.2305-94T= XP_011518133.1:n.2305-94T=
XM_011519832.1:c.1534-94T= XP_011518134.1:n.1534-94T=
XM_011519833.1:c.1431-94T= XP_011518135.1:n.1431-94T=
XR_930841.1:n.1752-94T=
XR_930842.1:n.1693-94T=
XM_011519832.3:c.1534-94T= XP_011518134.1:n.1534-94T=
XM_017017075.1:c.2281-94T= XP_016872564.1:n.2281-94T=
XR_001747717.2:n.1540-94T=
NM_153676.4:c.2281-94T= MANE Select NP_710142.1:n.2281-94T=
NM_001297764.2:c.1324-94T= NP_001284693.1:n.1324-94T=
NM_005709.4:c.1381-94T= MANE Plus Clinical NP_005700.2:n.1381-94T=
NR_123738.2:n.1416-94T=