Canonical Allele Identifier: CA1955173441

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501486T= , CM000673.2:g.17501486T=	GRCh38
NC_000011.9:g.17523033T= , CM000673.1:g.17523033T=	GRCh37
NC_000011.8:g.17479609T=	NCBI36
NG_011883.1:g.47931A=
NG_011883.2:g.47931A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2276A= MANE Select	ENSP00000005226.7:p.Lys759=
ENST00000318024.9:c.1376A= MANE Plus Clinical	ENSP00000317018.4:p.Lys459=
ENST00000005226.11:c.2276A=	ENSP00000005226.7:p.Lys759=
ENST00000318024.8:c.1376A=	ENSP00000317018.4:p.Lys459=
ENST00000526313.5:c.*90A=	ENSP00000432236.1:n.*90A=
ENST00000527020.5:c.1319A=	ENSP00000436934.1:p.Lys440=
ENST00000527720.5:c.1283A=	ENSP00000432944.1:p.Lys428=
ENST00000529563.5:n.260A=
ENST00000534556.1:n.161A=
NM_001297764.1:c.1319A=	NP_001284693.1:p.Lys440=
NM_005709.3:c.1376A=	NP_005700.2:p.Lys459=
NM_153676.3:c.2276A=	NP_710142.1:p.Lys759=
NR_123738.1:n.1411A=
XM_011519831.1:c.2300A=	XP_011518133.1:p.Lys767=
XM_011519832.1:c.1529A=	XP_011518134.1:p.Lys510=
XM_011519833.1:c.1426A=	XP_011518135.1:p.Arg476=
XR_930841.1:n.1747A=
XR_930842.1:n.1688A=
XM_011519832.3:c.1529A=	XP_011518134.1:p.Lys510=
XM_017017075.1:c.2276A=	XP_016872564.1:p.Lys759=
XR_001747717.2:n.1535A=
NM_153676.4:c.2276A= MANE Select	NP_710142.1:p.Lys759=
NM_001297764.2:c.1319A=	NP_001284693.1:p.Lys440=
NM_005709.4:c.1376A= MANE Plus Clinical	NP_005700.2:p.Lys459=
NR_123738.2:n.1411A=