Canonical Allele Identifier: CA473305010

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2762404
• ClinVar RCV Id: RCV003570055
• MyVariant Identifiers: chr11:g.17519817A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498270A>G , CM000673.2:g.17498270A>G	GRCh38
NC_000011.9:g.17519817A>G , CM000673.1:g.17519817A>G	GRCh37
NC_000011.8:g.17476393A>G	NCBI36
NG_011883.1:g.51147T>C
NG_011883.2:g.51147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2382T>C MANE Select	ENSP00000005226.7:p.Gly794=
ENST00000318024.9:c.1482T>C MANE Plus Clinical	ENSP00000317018.4:p.Gly494=
ENST00000005226.11:c.2382T>C	ENSP00000005226.7:p.Gly794=
ENST00000318024.8:c.1482T>C	ENSP00000317018.4:p.Gly494=
ENST00000526313.5:c.*196T>C	ENSP00000432236.1:n.*196T>C
ENST00000527020.5:c.1425T>C	ENSP00000436934.1:p.Gly475=
ENST00000527720.5:c.1389T>C	ENSP00000432944.1:p.Gly463=
ENST00000529563.5:n.366T>C
NM_001297764.1:c.1425T>C	NP_001284693.1:p.Gly475=
NM_005709.3:c.1482T>C	NP_005700.2:p.Gly494=
NM_153676.3:c.2382T>C	NP_710142.1:p.Gly794=
NR_123738.1:n.1517T>C
XM_011519831.1:c.2406T>C	XP_011518133.1:p.Gly802=
XM_011519832.1:c.1635T>C	XP_011518134.1:p.Gly545=
XM_011519832.3:c.1635T>C	XP_011518134.1:p.Gly545=
XM_017017075.1:c.2382T>C	XP_016872564.1:p.Gly794=
XR_001747717.2:n.1641T>C
NM_153676.4:c.2382T>C MANE Select	NP_710142.1:p.Gly794=
NM_001297764.2:c.1425T>C	NP_001284693.1:p.Gly475=
NM_005709.4:c.1482T>C MANE Plus Clinical	NP_005700.2:p.Gly494=
NR_123738.2:n.1517T>C