Canonical Allele Identifier: CA1955177197

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509582A= , CM000673.2:g.17509582A=	GRCh38
NC_000011.9:g.17531129A= , CM000673.1:g.17531129A=	GRCh37
NC_000011.8:g.17487705A=	NCBI36
NG_011883.1:g.39835T=
NG_011883.2:g.39835T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1787T= MANE Select	ENSP00000005226.7:p.Val596=
ENST00000318024.9:c.1285-7602T= MANE Plus Clinical	ENSP00000317018.4:n.1285-7602T=
ENST00000005226.11:c.1787T=	ENSP00000005226.7:p.Val596=
ENST00000318024.8:c.1285-7602T=	ENSP00000317018.4:n.1285-7602T=
ENST00000526313.5:c.1211-7602T=	ENSP00000432236.1:n.1211-7602T=
ENST00000527020.5:c.1228-7602T=	ENSP00000436934.1:n.1228-7602T=
ENST00000527720.5:c.1192-7602T=	ENSP00000432944.1:n.1192-7602T=
ENST00000529563.5:n.168+6873T=
NM_001297764.1:c.1228-7602T=	NP_001284693.1:n.1228-7602T=
NM_005709.3:c.1285-7602T=	NP_005700.2:n.1285-7602T=
NM_153676.3:c.1787T=	NP_710142.1:p.Val596=
NR_123738.1:n.1320-7602T=
XM_011519831.1:c.1811T=	XP_011518133.1:p.Val604=
XM_011519832.1:c.1437+2320T=	XP_011518134.1:n.1437+2320T=
XM_011519833.1:c.1334+6659T=	XP_011518135.1:n.1334+6659T=
XR_930841.1:n.1655+2320T=
XR_930842.1:n.1596+2320T=
XM_011519832.3:c.1437+2320T=	XP_011518134.1:n.1437+2320T=
XM_017017072.1:c.1811T=	XP_016872561.1:p.Val604=
XM_017017073.1:c.1754T=	XP_016872562.1:p.Val585=
XM_017017074.1:c.1555-353T=	XP_016872563.1:n.1555-353T=
XM_017017075.1:c.1787T=	XP_016872564.1:p.Val596=
XR_001747717.2:n.1443+6659T=
NM_153676.4:c.1787T= MANE Select	NP_710142.1:p.Val596=
NM_001297764.2:c.1228-7602T=	NP_001284693.1:n.1228-7602T=
NM_005709.4:c.1285-7602T= MANE Plus Clinical	NP_005700.2:n.1285-7602T=
NR_123738.2:n.1320-7602T=