Canonical Allele Identifier: CA218486366
Gene: USH1C HGNC NCBI

Linked Data

dbSNP Id: rs531977664

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501096C>T , CM000673.2:g.17501096C>T GRCh38
NC_000011.9:g.17522643C>T , CM000673.1:g.17522643C>T GRCh37
NC_000011.8:g.17479219C>T NCBI36
NG_011883.1:g.48321G>A
NG_011883.2:g.48321G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2335G>A MANE Select ENSP00000005226.7:p.Val779Met
ENST00000318024.9:c.1435G>A MANE Plus Clinical ENSP00000317018.4:p.Val479Met
ENST00000005226.11:c.2335G>A ENSP00000005226.7:p.Val779Met
ENST00000318024.8:c.1435G>A ENSP00000317018.4:p.Val479Met
ENST00000526313.5:c.*149G>A ENSP00000432236.1:n.*149G>A
ENST00000527020.5:c.1378G>A ENSP00000436934.1:p.Val460Met
ENST00000527720.5:c.1342G>A ENSP00000432944.1:p.Val448Met
ENST00000529563.5:n.319G>A
ENST00000534556.1:n.220G>A
NM_001297764.1:c.1378G>A NP_001284693.1:p.Val460Met
NM_005709.3:c.1435G>A NP_005700.2:p.Val479Met
NM_153676.3:c.2335G>A NP_710142.1:p.Val779Met
NR_123738.1:n.1470G>A
XM_011519831.1:c.2359G>A XP_011518133.1:p.Val787Met
XM_011519832.1:c.1588G>A XP_011518134.1:p.Val530Met
XM_011519833.1:c.*42G>A XP_011518135.1:n.*42G>A
XR_930841.1:n.1806G>A
XR_930842.1:n.1747G>A
XM_011519832.3:c.1588G>A XP_011518134.1:p.Val530Met
XM_017017075.1:c.2335G>A XP_016872564.1:p.Val779Met
XR_001747717.2:n.1594G>A
NM_153676.4:c.2335G>A MANE Select NP_710142.1:p.Val779Met
NM_001297764.2:c.1378G>A NP_001284693.1:p.Val460Met
NM_005709.4:c.1435G>A MANE Plus Clinical NP_005700.2:p.Val479Met
NR_123738.2:n.1470G>A