Canonical Allele Identifier: CA1955173218

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501082A= , CM000673.2:g.17501082A=	GRCh38
NC_000011.9:g.17522629A= , CM000673.1:g.17522629A=	GRCh37
NC_000011.8:g.17479205A=	NCBI36
NG_011883.1:g.48335T=
NG_011883.2:g.48335T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2349T= MANE Select	ENSP00000005226.7:p.Ala783=
ENST00000318024.9:c.1449T= MANE Plus Clinical	ENSP00000317018.4:p.Ala483=
ENST00000005226.11:c.2349T=	ENSP00000005226.7:p.Ala783=
ENST00000318024.8:c.1449T=	ENSP00000317018.4:p.Ala483=
ENST00000526313.5:c.*163T=	ENSP00000432236.1:n.*163T=
ENST00000527020.5:c.1392T=	ENSP00000436934.1:p.Ala464=
ENST00000527720.5:c.1356T=	ENSP00000432944.1:p.Ala452=
ENST00000529563.5:n.333T=
ENST00000534556.1:n.234T=
NM_001297764.1:c.1392T=	NP_001284693.1:p.Ala464=
NM_005709.3:c.1449T=	NP_005700.2:p.Ala483=
NM_153676.3:c.2349T=	NP_710142.1:p.Ala783=
NR_123738.1:n.1484T=
XM_011519831.1:c.2373T=	XP_011518133.1:p.Ala791=
XM_011519832.1:c.1602T=	XP_011518134.1:p.Ala534=
XM_011519833.1:c.*56T=	XP_011518135.1:n.*56T=
XR_930841.1:n.1820T=
XR_930842.1:n.1761T=
XM_011519832.3:c.1602T=	XP_011518134.1:p.Ala534=
XM_017017075.1:c.2349T=	XP_016872564.1:p.Ala783=
XR_001747717.2:n.1608T=
NM_153676.4:c.2349T= MANE Select	NP_710142.1:p.Ala783=
NM_001297764.2:c.1392T=	NP_001284693.1:p.Ala464=
NM_005709.4:c.1449T= MANE Plus Clinical	NP_005700.2:p.Ala483=
NR_123738.2:n.1484T=