Canonical Allele Identifier: CA473304421

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17496763A>G , CM000673.2:g.17496763A>G	GRCh38
NC_000011.9:g.17518310A>G , CM000673.1:g.17518310A>G	GRCh37
NC_000011.8:g.17474886A>G	NCBI36
NG_011883.1:g.52654T>C
NG_011883.2:g.52654T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_153676.4:c.2541T>C MANE Select	NP_710142.1:p.Asp847=
ENST00000005226.12:c.2541T>C MANE Select	ENSP00000005226.7:p.Asp847=
NM_005709.4:c.1641T>C MANE Plus Clinical	NP_005700.2:p.Asp547=
ENST00000318024.9:c.1641T>C MANE Plus Clinical	ENSP00000317018.4:p.Asp547=
NM_001297764.1:c.1584T>C	NP_001284693.1:p.Asp528=
NM_001297764.2:c.1584T>C	NP_001284693.1:p.Asp528=
NM_005709.3:c.1641T>C	NP_005700.2:p.Asp547=
NM_153676.3:c.2541T>C	NP_710142.1:p.Asp847=
NR_123738.1:n.1676T>C
NR_123738.2:n.1676T>C
ENST00000005226.11:c.2541T>C	ENSP00000005226.7:p.Asp847=
ENST00000318024.8:c.1641T>C	ENSP00000317018.4:p.Asp547=
ENST00000526313.5:c.*355T>C	ENSP00000432236.1:n.*355T>C
ENST00000527020.5:c.1584T>C	ENSP00000436934.1:p.Asp528=
ENST00000527551.1:n.151T>C
ENST00000527720.5:c.1548T>C	ENSP00000432944.1:p.Asp516=
ENST00000529563.5:n.525T>C
XM_011519831.1:c.2565T>C	XP_011518133.1:p.Asp855=
XM_011519832.1:c.1794T>C	XP_011518134.1:p.Asp598=
XM_011519832.3:c.1794T>C	XP_011518134.1:p.Asp598=
XM_017017075.1:c.2541T>C	XP_016872564.1:p.Asp847=
XR_001747717.2:n.1800T>C