Canonical Allele Identifier: CA473304933

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498195C>T , CM000673.2:g.17498195C>T	GRCh38
NC_000011.9:g.17519742C>T , CM000673.1:g.17519742C>T	GRCh37
NC_000011.8:g.17476318C>T	NCBI36
NG_011883.1:g.51222G>A
NG_011883.2:g.51222G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153676.4:c.2457G>A MANE Select	NP_710142.1:p.Glu819=
ENST00000005226.12:c.2457G>A MANE Select	ENSP00000005226.7:p.Glu819=
NM_005709.4:c.1557G>A MANE Plus Clinical	NP_005700.2:p.Glu519=
ENST00000318024.9:c.1557G>A MANE Plus Clinical	ENSP00000317018.4:p.Glu519=
NM_001297764.1:c.1500G>A	NP_001284693.1:p.Glu500=
NM_001297764.2:c.1500G>A	NP_001284693.1:p.Glu500=
NM_005709.3:c.1557G>A	NP_005700.2:p.Glu519=
NM_153676.3:c.2457G>A	NP_710142.1:p.Glu819=
NR_123738.1:n.1592G>A
NR_123738.2:n.1592G>A
ENST00000005226.11:c.2457G>A	ENSP00000005226.7:p.Glu819=
ENST00000318024.8:c.1557G>A	ENSP00000317018.4:p.Glu519=
ENST00000526313.5:c.*271G>A	ENSP00000432236.1:n.*271G>A
ENST00000527020.5:c.1500G>A	ENSP00000436934.1:p.Glu500=
ENST00000527720.5:c.1464G>A	ENSP00000432944.1:p.Glu488=
ENST00000529563.5:n.441G>A
XM_011519831.1:c.2481G>A	XP_011518133.1:p.Glu827=
XM_011519832.1:c.1710G>A	XP_011518134.1:p.Glu570=
XM_011519832.3:c.1710G>A	XP_011518134.1:p.Glu570=
XM_017017075.1:c.2457G>A	XP_016872564.1:p.Glu819=
XR_001747717.2:n.1716G>A