Canonical Allele Identifier: CA1955173219

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501083G= , CM000673.2:g.17501083G=	GRCh38
NC_000011.9:g.17522630G= , CM000673.1:g.17522630G=	GRCh37
NC_000011.8:g.17479206G=	NCBI36
NG_011883.1:g.48334C=
NG_011883.2:g.48334C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2348C= MANE Select	ENSP00000005226.7:p.Ala783=
ENST00000318024.9:c.1448C= MANE Plus Clinical	ENSP00000317018.4:p.Ala483=
ENST00000005226.11:c.2348C=	ENSP00000005226.7:p.Ala783=
ENST00000318024.8:c.1448C=	ENSP00000317018.4:p.Ala483=
ENST00000526313.5:c.*162C=	ENSP00000432236.1:n.*162C=
ENST00000527020.5:c.1391C=	ENSP00000436934.1:p.Ala464=
ENST00000527720.5:c.1355C=	ENSP00000432944.1:p.Ala452=
ENST00000529563.5:n.332C=
ENST00000534556.1:n.233C=
NM_001297764.1:c.1391C=	NP_001284693.1:p.Ala464=
NM_005709.3:c.1448C=	NP_005700.2:p.Ala483=
NM_153676.3:c.2348C=	NP_710142.1:p.Ala783=
NR_123738.1:n.1483C=
XM_011519831.1:c.2372C=	XP_011518133.1:p.Ala791=
XM_011519832.1:c.1601C=	XP_011518134.1:p.Ala534=
XM_011519833.1:c.*55C=	XP_011518135.1:n.*55C=
XR_930841.1:n.1819C=
XR_930842.1:n.1760C=
XM_011519832.3:c.1601C=	XP_011518134.1:p.Ala534=
XM_017017075.1:c.2348C=	XP_016872564.1:p.Ala783=
XR_001747717.2:n.1607C=
NM_153676.4:c.2348C= MANE Select	NP_710142.1:p.Ala783=
NM_001297764.2:c.1391C=	NP_001284693.1:p.Ala464=
NM_005709.4:c.1448C= MANE Plus Clinical	NP_005700.2:p.Ala483=
NR_123738.2:n.1483C=