Canonical Allele Identifier: CA1955173197

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501049A= , CM000673.2:g.17501049A=	GRCh38
NC_000011.9:g.17522596A= , CM000673.1:g.17522596A=	GRCh37
NC_000011.8:g.17479172A=	NCBI36
NG_011883.1:g.48368T=
NG_011883.2:g.48368T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2380+2T= MANE Select	ENSP00000005226.7:n.2380+2T=
ENST00000318024.9:c.1480+2T= MANE Plus Clinical	ENSP00000317018.4:n.1480+2T=
ENST00000005226.11:c.2380+2T=	ENSP00000005226.7:n.2380+2T=
ENST00000318024.8:c.1480+2T=	ENSP00000317018.4:n.1480+2T=
ENST00000526313.5:c.*194+2T=	ENSP00000432236.1:n.*194+2T=
ENST00000527020.5:c.1423+2T=	ENSP00000436934.1:n.1423+2T=
ENST00000527720.5:c.1387+2T=	ENSP00000432944.1:n.1387+2T=
ENST00000529563.5:n.364+2T=
NM_001297764.1:c.1423+2T=	NP_001284693.1:n.1423+2T=
NM_005709.3:c.1480+2T=	NP_005700.2:n.1480+2T=
NM_153676.3:c.2380+2T=	NP_710142.1:n.2380+2T=
NR_123738.1:n.1515+2T=
XM_011519831.1:c.2404+2T=	XP_011518133.1:n.2404+2T=
XM_011519832.1:c.1633+2T=	XP_011518134.1:n.1633+2T=
XR_930841.1:n.1853T=
XR_930842.1:n.1794T=
XM_011519832.3:c.1633+2T=	XP_011518134.1:n.1633+2T=
XM_017017075.1:c.2380+2T=	XP_016872564.1:n.2380+2T=
XR_001747717.2:n.1639+2T=
NM_153676.4:c.2380+2T= MANE Select	NP_710142.1:n.2380+2T=
NM_001297764.2:c.1423+2T=	NP_001284693.1:n.1423+2T=
NM_005709.4:c.1480+2T= MANE Plus Clinical	NP_005700.2:n.1480+2T=
NR_123738.2:n.1515+2T=