Canonical Allele Identifier: CA1955173216

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501080A= , CM000673.2:g.17501080A=	GRCh38
NC_000011.9:g.17522627A= , CM000673.1:g.17522627A=	GRCh37
NC_000011.8:g.17479203A=	NCBI36
NG_011883.1:g.48337T=
NG_011883.2:g.48337T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2351T= MANE Select	ENSP00000005226.7:p.Val784=
ENST00000318024.9:c.1451T= MANE Plus Clinical	ENSP00000317018.4:p.Val484=
ENST00000005226.11:c.2351T=	ENSP00000005226.7:p.Val784=
ENST00000318024.8:c.1451T=	ENSP00000317018.4:p.Val484=
ENST00000526313.5:c.*165T=	ENSP00000432236.1:n.*165T=
ENST00000527020.5:c.1394T=	ENSP00000436934.1:p.Val465=
ENST00000527720.5:c.1358T=	ENSP00000432944.1:p.Val453=
ENST00000529563.5:n.335T=
ENST00000534556.1:n.236T=
NM_001297764.1:c.1394T=	NP_001284693.1:p.Val465=
NM_005709.3:c.1451T=	NP_005700.2:p.Val484=
NM_153676.3:c.2351T=	NP_710142.1:p.Val784=
NR_123738.1:n.1486T=
XM_011519831.1:c.2375T=	XP_011518133.1:p.Val792=
XM_011519832.1:c.1604T=	XP_011518134.1:p.Val535=
XM_011519833.1:c.*58T=	XP_011518135.1:n.*58T=
XR_930841.1:n.1822T=
XR_930842.1:n.1763T=
XM_011519832.3:c.1604T=	XP_011518134.1:p.Val535=
XM_017017075.1:c.2351T=	XP_016872564.1:p.Val784=
XR_001747717.2:n.1610T=
NM_153676.4:c.2351T= MANE Select	NP_710142.1:p.Val784=
NM_001297764.2:c.1394T=	NP_001284693.1:p.Val465=
NM_005709.4:c.1451T= MANE Plus Clinical	NP_005700.2:p.Val484=
NR_123738.2:n.1486T=