Canonical Allele Identifier: CA1955171743

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498252G= , CM000673.2:g.17498252G=	GRCh38
NC_000011.9:g.17519799G= , CM000673.1:g.17519799G=	GRCh37
NC_000011.8:g.17476375G=	NCBI36
NG_011883.1:g.51165C=
NG_011883.2:g.51165C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2400C= MANE Select	ENSP00000005226.7:p.Asp800=
ENST00000318024.9:c.1500C= MANE Plus Clinical	ENSP00000317018.4:p.Asp500=
ENST00000005226.11:c.2400C=	ENSP00000005226.7:p.Asp800=
ENST00000318024.8:c.1500C=	ENSP00000317018.4:p.Asp500=
ENST00000526313.5:c.*214C=	ENSP00000432236.1:n.*214C=
ENST00000527020.5:c.1443C=	ENSP00000436934.1:p.Asp481=
ENST00000527720.5:c.1407C=	ENSP00000432944.1:p.Asp469=
ENST00000529563.5:n.384C=
NM_001297764.1:c.1443C=	NP_001284693.1:p.Asp481=
NM_005709.3:c.1500C=	NP_005700.2:p.Asp500=
NM_153676.3:c.2400C=	NP_710142.1:p.Asp800=
NR_123738.1:n.1535C=
XM_011519831.1:c.2424C=	XP_011518133.1:p.Asp808=
XM_011519832.1:c.1653C=	XP_011518134.1:p.Asp551=
XM_011519832.3:c.1653C=	XP_011518134.1:p.Asp551=
XM_017017075.1:c.2400C=	XP_016872564.1:p.Asp800=
XR_001747717.2:n.1659C=
NM_153676.4:c.2400C= MANE Select	NP_710142.1:p.Asp800=
NM_001297764.2:c.1443C=	NP_001284693.1:p.Asp481=
NM_005709.4:c.1500C= MANE Plus Clinical	NP_005700.2:p.Asp500=
NR_123738.2:n.1535C=