Canonical Allele Identifier: CA379802922

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522610C>T (hg19) ; chr11:g.17501063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501063C>T , CM000673.2:g.17501063C>T	GRCh38
NC_000011.9:g.17522610C>T , CM000673.1:g.17522610C>T	GRCh37
NC_000011.8:g.17479186C>T	NCBI36
NG_011883.1:g.48354G>A
NG_011883.2:g.48354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2368G>A MANE Select	ENSP00000005226.7:p.Ala790Thr
ENST00000318024.9:c.1468G>A MANE Plus Clinical	ENSP00000317018.4:p.Ala490Thr
ENST00000005226.11:c.2368G>A	ENSP00000005226.7:p.Ala790Thr
ENST00000318024.8:c.1468G>A	ENSP00000317018.4:p.Ala490Thr
ENST00000526313.5:c.*182G>A	ENSP00000432236.1:n.*182G>A
ENST00000527020.5:c.1411G>A	ENSP00000436934.1:p.Ala471Thr
ENST00000527720.5:c.1375G>A	ENSP00000432944.1:p.Ala459Thr
ENST00000529563.5:n.352G>A
NM_001297764.1:c.1411G>A	NP_001284693.1:p.Ala471Thr
NM_005709.3:c.1468G>A	NP_005700.2:p.Ala490Thr
NM_153676.3:c.2368G>A	NP_710142.1:p.Ala790Thr
NR_123738.1:n.1503G>A
XM_011519831.1:c.2392G>A	XP_011518133.1:p.Ala798Thr
XM_011519832.1:c.1621G>A	XP_011518134.1:p.Ala541Thr
XM_011519833.1:c.*75G>A	XP_011518135.1:n.*75G>A
XR_930841.1:n.1839G>A
XR_930842.1:n.1780G>A
XM_011519832.3:c.1621G>A	XP_011518134.1:p.Ala541Thr
XM_017017075.1:c.2368G>A	XP_016872564.1:p.Ala790Thr
XR_001747717.2:n.1627G>A
NM_153676.4:c.2368G>A MANE Select	NP_710142.1:p.Ala790Thr
NM_001297764.2:c.1411G>A	NP_001284693.1:p.Ala471Thr
NM_005709.4:c.1468G>A MANE Plus Clinical	NP_005700.2:p.Ala490Thr
NR_123738.2:n.1503G>A