Canonical Allele Identifier: CA1955171704

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498180C= , CM000673.2:g.17498180C=	GRCh38
NC_000011.9:g.17519727C= , CM000673.1:g.17519727C=	GRCh37
NC_000011.8:g.17476303C=	NCBI36
NG_011883.1:g.51237G=
NG_011883.2:g.51237G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2472G= MANE Select	ENSP00000005226.7:p.Lys824=
ENST00000318024.9:c.1572G= MANE Plus Clinical	ENSP00000317018.4:p.Lys524=
ENST00000005226.11:c.2472G=	ENSP00000005226.7:p.Lys824=
ENST00000318024.8:c.1572G=	ENSP00000317018.4:p.Lys524=
ENST00000526313.5:c.*286G=	ENSP00000432236.1:n.*286G=
ENST00000527020.5:c.1515G=	ENSP00000436934.1:p.Lys505=
ENST00000527720.5:c.1479G=	ENSP00000432944.1:p.Lys493=
ENST00000529563.5:n.456G=
NM_001297764.1:c.1515G=	NP_001284693.1:p.Lys505=
NM_005709.3:c.1572G=	NP_005700.2:p.Lys524=
NM_153676.3:c.2472G=	NP_710142.1:p.Lys824=
NR_123738.1:n.1607G=
XM_011519831.1:c.2496G=	XP_011518133.1:p.Lys832=
XM_011519832.1:c.1725G=	XP_011518134.1:p.Lys575=
XM_011519832.3:c.1725G=	XP_011518134.1:p.Lys575=
XM_017017075.1:c.2472G=	XP_016872564.1:p.Lys824=
XR_001747717.2:n.1731G=
NM_153676.4:c.2472G= MANE Select	NP_710142.1:p.Lys824=
NM_001297764.2:c.1515G=	NP_001284693.1:p.Lys505=
NM_005709.4:c.1572G= MANE Plus Clinical	NP_005700.2:p.Lys524=
NR_123738.2:n.1607G=