Canonical Allele Identifier: CA1955173462

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501523G= , CM000673.2:g.17501523G=	GRCh38
NC_000011.9:g.17523070G= , CM000673.1:g.17523070G=	GRCh37
NC_000011.8:g.17479646G=	NCBI36
NG_011883.1:g.47894C=
NG_011883.2:g.47894C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2239C= MANE Select	ENSP00000005226.7:p.Gln747=
ENST00000318024.9:c.1339C= MANE Plus Clinical	ENSP00000317018.4:p.Gln447=
ENST00000005226.11:c.2239C=	ENSP00000005226.7:p.Gln747=
ENST00000318024.8:c.1339C=	ENSP00000317018.4:p.Gln447=
ENST00000526313.5:c.*53C=	ENSP00000432236.1:n.*53C=
ENST00000527020.5:c.1282C=	ENSP00000436934.1:p.Gln428=
ENST00000527720.5:c.1246C=	ENSP00000432944.1:p.Gln416=
ENST00000529563.5:n.223C=
ENST00000534556.1:n.124C=
NM_001297764.1:c.1282C=	NP_001284693.1:p.Gln428=
NM_005709.3:c.1339C=	NP_005700.2:p.Gln447=
NM_153676.3:c.2239C=	NP_710142.1:p.Gln747=
NR_123738.1:n.1374C=
XM_011519831.1:c.2263C=	XP_011518133.1:p.Gln755=
XM_011519832.1:c.1492C=	XP_011518134.1:p.Gln498=
XM_011519833.1:c.1389C=	XP_011518135.1:p.Ser463=
XR_930841.1:n.1710C=
XR_930842.1:n.1651C=
XM_011519832.3:c.1492C=	XP_011518134.1:p.Gln498=
XM_017017075.1:c.2239C=	XP_016872564.1:p.Gln747=
XR_001747717.2:n.1498C=
NM_153676.4:c.2239C= MANE Select	NP_710142.1:p.Gln747=
NM_001297764.2:c.1282C=	NP_001284693.1:p.Gln428=
NM_005709.4:c.1339C= MANE Plus Clinical	NP_005700.2:p.Gln447=
NR_123738.2:n.1374C=