Canonical Allele Identifier: CA379803021

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522636A>T (hg19) ; chr11:g.17501089A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501089A>T , CM000673.2:g.17501089A>T	GRCh38
NC_000011.9:g.17522636A>T , CM000673.1:g.17522636A>T	GRCh37
NC_000011.8:g.17479212A>T	NCBI36
NG_011883.1:g.48328T>A
NG_011883.2:g.48328T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2342T>A MANE Select	ENSP00000005226.7:p.Val781Asp
ENST00000318024.9:c.1442T>A MANE Plus Clinical	ENSP00000317018.4:p.Val481Asp
ENST00000005226.11:c.2342T>A	ENSP00000005226.7:p.Val781Asp
ENST00000318024.8:c.1442T>A	ENSP00000317018.4:p.Val481Asp
ENST00000526313.5:c.*156T>A	ENSP00000432236.1:n.*156T>A
ENST00000527020.5:c.1385T>A	ENSP00000436934.1:p.Val462Asp
ENST00000527720.5:c.1349T>A	ENSP00000432944.1:p.Val450Asp
ENST00000529563.5:n.326T>A
ENST00000534556.1:n.227T>A
NM_001297764.1:c.1385T>A	NP_001284693.1:p.Val462Asp
NM_005709.3:c.1442T>A	NP_005700.2:p.Val481Asp
NM_153676.3:c.2342T>A	NP_710142.1:p.Val781Asp
NR_123738.1:n.1477T>A
XM_011519831.1:c.2366T>A	XP_011518133.1:p.Val789Asp
XM_011519832.1:c.1595T>A	XP_011518134.1:p.Val532Asp
XM_011519833.1:c.*49T>A	XP_011518135.1:n.*49T>A
XR_930841.1:n.1813T>A
XR_930842.1:n.1754T>A
XM_011519832.3:c.1595T>A	XP_011518134.1:p.Val532Asp
XM_017017075.1:c.2342T>A	XP_016872564.1:p.Val781Asp
XR_001747717.2:n.1601T>A
NM_153676.4:c.2342T>A MANE Select	NP_710142.1:p.Val781Asp
NM_001297764.2:c.1385T>A	NP_001284693.1:p.Val462Asp
NM_005709.4:c.1442T>A MANE Plus Clinical	NP_005700.2:p.Val481Asp
NR_123738.2:n.1477T>A