Canonical Allele Identifier: CA5904265

Gene: USH1C

Linked Data

• dbSNP Id: rs756452832
• ExAC: 11:17523071 C / A
• gnomAD v2: 11-17523071-C-A
• gnomAD v4: 11-17501524-C-A
• MyVariant Identifiers: chr11:g.17523071C>A (hg19) ; chr11:g.17501524C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501524C>A , CM000673.2:g.17501524C>A	GRCh38
NC_000011.9:g.17523071C>A , CM000673.1:g.17523071C>A	GRCh37
NC_000011.8:g.17479647C>A	NCBI36
NG_011883.1:g.47893G>T
NG_011883.2:g.47893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2238G>T MANE Select	ENSP00000005226.7:p.Glu746Asp
ENST00000318024.9:c.1338G>T MANE Plus Clinical	ENSP00000317018.4:p.Glu446Asp
ENST00000005226.11:c.2238G>T	ENSP00000005226.7:p.Glu746Asp
ENST00000318024.8:c.1338G>T	ENSP00000317018.4:p.Glu446Asp
ENST00000526313.5:c.*52G>T	ENSP00000432236.1:n.*52G>T
ENST00000527020.5:c.1281G>T	ENSP00000436934.1:p.Glu427Asp
ENST00000527720.5:c.1245G>T	ENSP00000432944.1:p.Glu415Asp
ENST00000529563.5:n.222G>T
ENST00000534556.1:n.123G>T
NM_001297764.1:c.1281G>T	NP_001284693.1:p.Glu427Asp
NM_005709.3:c.1338G>T	NP_005700.2:p.Glu446Asp
NM_153676.3:c.2238G>T	NP_710142.1:p.Glu746Asp
NR_123738.1:n.1373G>T
XM_011519831.1:c.2262G>T	XP_011518133.1:p.Glu754Asp
XM_011519832.1:c.1491G>T	XP_011518134.1:p.Glu497Asp
XM_011519833.1:c.1388G>T	XP_011518135.1:p.Ser463Ile
XR_930841.1:n.1709G>T
XR_930842.1:n.1650G>T
XM_011519832.3:c.1491G>T	XP_011518134.1:p.Glu497Asp
XM_017017075.1:c.2238G>T	XP_016872564.1:p.Glu746Asp
XR_001747717.2:n.1497G>T
NM_153676.4:c.2238G>T MANE Select	NP_710142.1:p.Glu746Asp
NM_001297764.2:c.1281G>T	NP_001284693.1:p.Glu427Asp
NM_005709.4:c.1338G>T MANE Plus Clinical	NP_005700.2:p.Glu446Asp
NR_123738.2:n.1373G>T