Canonical Allele Identifier: CA473305245

Gene: USH1C

Linked Data

• gnomAD v4: 11-17501055-C-T
• MyVariant Identifiers: chr11:g.17522602C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501055C>T , CM000673.2:g.17501055C>T	GRCh38
NC_000011.9:g.17522602C>T , CM000673.1:g.17522602C>T	GRCh37
NC_000011.8:g.17479178C>T	NCBI36
NG_011883.1:g.48362G>A
NG_011883.2:g.48362G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2376G>A MANE Select	ENSP00000005226.7:p.Arg792=
ENST00000318024.9:c.1476G>A MANE Plus Clinical	ENSP00000317018.4:p.Arg492=
ENST00000005226.11:c.2376G>A	ENSP00000005226.7:p.Arg792=
ENST00000318024.8:c.1476G>A	ENSP00000317018.4:p.Arg492=
ENST00000526313.5:c.*190G>A	ENSP00000432236.1:n.*190G>A
ENST00000527020.5:c.1419G>A	ENSP00000436934.1:p.Arg473=
ENST00000527720.5:c.1383G>A	ENSP00000432944.1:p.Arg461=
ENST00000529563.5:n.360G>A
NM_001297764.1:c.1419G>A	NP_001284693.1:p.Arg473=
NM_005709.3:c.1476G>A	NP_005700.2:p.Arg492=
NM_153676.3:c.2376G>A	NP_710142.1:p.Arg792=
NR_123738.1:n.1511G>A
XM_011519831.1:c.2400G>A	XP_011518133.1:p.Arg800=
XM_011519832.1:c.1629G>A	XP_011518134.1:p.Arg543=
XM_011519833.1:c.*83G>A	XP_011518135.1:n.*83G>A
XR_930841.1:n.1847G>A
XR_930842.1:n.1788G>A
XM_011519832.3:c.1629G>A	XP_011518134.1:p.Arg543=
XM_017017075.1:c.2376G>A	XP_016872564.1:p.Arg792=
XR_001747717.2:n.1635G>A
NM_153676.4:c.2376G>A MANE Select	NP_710142.1:p.Arg792=
NM_001297764.2:c.1419G>A	NP_001284693.1:p.Arg473=
NM_005709.4:c.1476G>A MANE Plus Clinical	NP_005700.2:p.Arg492=
NR_123738.2:n.1511G>A