Canonical Allele Identifier: CA1955171714

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498196T= , CM000673.2:g.17498196T=	GRCh38
NC_000011.9:g.17519743T= , CM000673.1:g.17519743T=	GRCh37
NC_000011.8:g.17476319T=	NCBI36
NG_011883.1:g.51221A=
NG_011883.2:g.51221A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2456A= MANE Select	ENSP00000005226.7:p.Glu819=
ENST00000318024.9:c.1556A= MANE Plus Clinical	ENSP00000317018.4:p.Glu519=
ENST00000005226.11:c.2456A=	ENSP00000005226.7:p.Glu819=
ENST00000318024.8:c.1556A=	ENSP00000317018.4:p.Glu519=
ENST00000526313.5:c.*270A=	ENSP00000432236.1:n.*270A=
ENST00000527020.5:c.1499A=	ENSP00000436934.1:p.Glu500=
ENST00000527720.5:c.1463A=	ENSP00000432944.1:p.Glu488=
ENST00000529563.5:n.440A=
NM_001297764.1:c.1499A=	NP_001284693.1:p.Glu500=
NM_005709.3:c.1556A=	NP_005700.2:p.Glu519=
NM_153676.3:c.2456A=	NP_710142.1:p.Glu819=
NR_123738.1:n.1591A=
XM_011519831.1:c.2480A=	XP_011518133.1:p.Glu827=
XM_011519832.1:c.1709A=	XP_011518134.1:p.Glu570=
XM_011519832.3:c.1709A=	XP_011518134.1:p.Glu570=
XM_017017075.1:c.2456A=	XP_016872564.1:p.Glu819=
XR_001747717.2:n.1715A=
NM_153676.4:c.2456A= MANE Select	NP_710142.1:p.Glu819=
NM_001297764.2:c.1499A=	NP_001284693.1:p.Glu500=
NM_005709.4:c.1556A= MANE Plus Clinical	NP_005700.2:p.Glu519=
NR_123738.2:n.1591A=