Canonical Allele Identifier: CA379803156

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522673C>T (hg19) ; chr11:g.17501126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501126C>T , CM000673.2:g.17501126C>T	GRCh38
NC_000011.9:g.17522673C>T , CM000673.1:g.17522673C>T	GRCh37
NC_000011.8:g.17479249C>T	NCBI36
NG_011883.1:g.48291G>A
NG_011883.2:g.48291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2305G>A MANE Select	ENSP00000005226.7:p.Glu769Lys
ENST00000318024.9:c.1405G>A MANE Plus Clinical	ENSP00000317018.4:p.Glu469Lys
ENST00000005226.11:c.2305G>A	ENSP00000005226.7:p.Glu769Lys
ENST00000318024.8:c.1405G>A	ENSP00000317018.4:p.Glu469Lys
ENST00000526313.5:c.*119G>A	ENSP00000432236.1:n.*119G>A
ENST00000527020.5:c.1348G>A	ENSP00000436934.1:p.Glu450Lys
ENST00000527720.5:c.1312G>A	ENSP00000432944.1:p.Glu438Lys
ENST00000529563.5:n.289G>A
ENST00000534556.1:n.190G>A
NM_001297764.1:c.1348G>A	NP_001284693.1:p.Glu450Lys
NM_005709.3:c.1405G>A	NP_005700.2:p.Glu469Lys
NM_153676.3:c.2305G>A	NP_710142.1:p.Glu769Lys
NR_123738.1:n.1440G>A
XM_011519831.1:c.2329G>A	XP_011518133.1:p.Glu777Lys
XM_011519832.1:c.1558G>A	XP_011518134.1:p.Glu520Lys
XM_011519833.1:c.*12G>A	XP_011518135.1:n.*12G>A
XR_930841.1:n.1776G>A
XR_930842.1:n.1717G>A
XM_011519832.3:c.1558G>A	XP_011518134.1:p.Glu520Lys
XM_017017075.1:c.2305G>A	XP_016872564.1:p.Glu769Lys
XR_001747717.2:n.1564G>A
NM_153676.4:c.2305G>A MANE Select	NP_710142.1:p.Glu769Lys
NM_001297764.2:c.1348G>A	NP_001284693.1:p.Glu450Lys
NM_005709.4:c.1405G>A MANE Plus Clinical	NP_005700.2:p.Glu469Lys
NR_123738.2:n.1440G>A