Canonical Allele Identifier: CA379800459
Gene: USH1C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17498179C>G , CM000673.2:g.17498179C>G GRCh38
NC_000011.9:g.17519726C>G , CM000673.1:g.17519726C>G GRCh37
NC_000011.8:g.17476302C>G NCBI36
NG_011883.1:g.51238G>C
NG_011883.2:g.51238G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2473G>C MANE Select ENSP00000005226.7:p.Ala825Pro
ENST00000318024.9:c.1573G>C MANE Plus Clinical ENSP00000317018.4:p.Ala525Pro
ENST00000005226.11:c.2473G>C ENSP00000005226.7:p.Ala825Pro
ENST00000318024.8:c.1573G>C ENSP00000317018.4:p.Ala525Pro
ENST00000526313.5:c.*287G>C ENSP00000432236.1:n.*287G>C
ENST00000527020.5:c.1516G>C ENSP00000436934.1:p.Ala506Pro
ENST00000527720.5:c.1480G>C ENSP00000432944.1:p.Ala494Pro
ENST00000529563.5:n.457G>C
NM_001297764.1:c.1516G>C NP_001284693.1:p.Ala506Pro
NM_005709.3:c.1573G>C NP_005700.2:p.Ala525Pro
NM_153676.3:c.2473G>C NP_710142.1:p.Ala825Pro
NR_123738.1:n.1608G>C
XM_011519831.1:c.2497G>C XP_011518133.1:p.Ala833Pro
XM_011519832.1:c.1726G>C XP_011518134.1:p.Ala576Pro
XM_011519832.3:c.1726G>C XP_011518134.1:p.Ala576Pro
XM_017017075.1:c.2473G>C XP_016872564.1:p.Ala825Pro
XR_001747717.2:n.1732G>C
NM_153676.4:c.2473G>C MANE Select NP_710142.1:p.Ala825Pro
NM_001297764.2:c.1516G>C NP_001284693.1:p.Ala506Pro
NM_005709.4:c.1573G>C MANE Plus Clinical NP_005700.2:p.Ala525Pro
NR_123738.2:n.1608G>C