Canonical Allele Identifier: CA1955177147

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509505G= , CM000673.2:g.17509505G=	GRCh38
NC_000011.9:g.17531052G= , CM000673.1:g.17531052G=	GRCh37
NC_000011.8:g.17487628G=	NCBI36
NG_011883.1:g.39912C=
NG_011883.2:g.39912C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1864C= MANE Select	ENSP00000005226.7:p.Leu622=
ENST00000318024.9:c.1285-7525C= MANE Plus Clinical	ENSP00000317018.4:n.1285-7525C=
ENST00000005226.11:c.1864C=	ENSP00000005226.7:p.Leu622=
ENST00000318024.8:c.1285-7525C=	ENSP00000317018.4:n.1285-7525C=
ENST00000526313.5:c.1211-7525C=	ENSP00000432236.1:n.1211-7525C=
ENST00000527020.5:c.1228-7525C=	ENSP00000436934.1:n.1228-7525C=
ENST00000527720.5:c.1192-7525C=	ENSP00000432944.1:n.1192-7525C=
ENST00000529563.5:n.168+6950C=
NM_001297764.1:c.1228-7525C=	NP_001284693.1:n.1228-7525C=
NM_005709.3:c.1285-7525C=	NP_005700.2:n.1285-7525C=
NM_153676.3:c.1864C=	NP_710142.1:p.Leu622=
NR_123738.1:n.1320-7525C=
XM_011519831.1:c.1888C=	XP_011518133.1:p.Leu630=
XM_011519832.1:c.1437+2397C=	XP_011518134.1:n.1437+2397C=
XM_011519833.1:c.1334+6736C=	XP_011518135.1:n.1334+6736C=
XR_930841.1:n.1655+2397C=
XR_930842.1:n.1596+2397C=
XM_011519832.3:c.1437+2397C=	XP_011518134.1:n.1437+2397C=
XM_017017072.1:c.1888C=	XP_016872561.1:p.Leu630=
XM_017017073.1:c.1831C=	XP_016872562.1:p.Leu611=
XM_017017074.1:c.1555-276C=	XP_016872563.1:n.1555-276C=
XM_017017075.1:c.1864C=	XP_016872564.1:p.Leu622=
XR_001747717.2:n.1443+6736C=
NM_153676.4:c.1864C= MANE Select	NP_710142.1:p.Leu622=
NM_001297764.2:c.1228-7525C=	NP_001284693.1:n.1228-7525C=
NM_005709.4:c.1285-7525C= MANE Plus Clinical	NP_005700.2:n.1285-7525C=
NR_123738.2:n.1320-7525C=