Canonical Allele Identifier: CA5904594

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17511952C>A , CM000673.2:g.17511952C>A	GRCh38
NC_000011.9:g.17533499C>A , CM000673.1:g.17533499C>A	GRCh37
NC_000011.8:g.17490075C>A	NCBI36
NG_011883.1:g.37465G>T
NG_011883.2:g.37465G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153676.4:c.1363G>T MANE Select	NP_710142.1:p.Glu455Ter
ENST00000005226.12:c.1363G>T MANE Select	ENSP00000005226.7:p.Glu455Ter
NM_005709.4:c.1284+5449G>T MANE Plus Clinical	NP_005700.2:n.1284+5449G>T
ENST00000318024.9:c.1284+5449G>T MANE Plus Clinical	ENSP00000317018.4:n.1284+5449G>T
NM_001297764.1:c.1227+5449G>T	NP_001284693.1:n.1227+5449G>T
NM_001297764.2:c.1227+5449G>T	NP_001284693.1:n.1227+5449G>T
NM_005709.3:c.1284+5449G>T	NP_005700.2:n.1284+5449G>T
NM_153676.3:c.1363G>T	NP_710142.1:p.Glu455Ter
NR_123738.1:n.1319+8918G>T
NR_123738.2:n.1319+8918G>T
ENST00000005226.11:c.1363G>T	ENSP00000005226.7:p.Glu455Ter
ENST00000318024.8:c.1284+5449G>T	ENSP00000317018.4:n.1284+5449G>T
ENST00000526313.5:c.1210+8918G>T	ENSP00000432236.1:n.1210+8918G>T
ENST00000527020.5:c.1227+5449G>T	ENSP00000436934.1:n.1227+5449G>T
ENST00000527720.5:c.1191+5449G>T	ENSP00000432944.1:n.1191+5449G>T
ENST00000529563.5:n.168+4503G>T
XM_011519831.1:c.1387G>T	XP_011518133.1:p.Glu463Ter
XM_011519832.1:c.1387G>T	XP_011518134.1:p.Glu463Ter
XM_011519832.3:c.1387G>T	XP_011518134.1:p.Glu463Ter
XM_011519833.1:c.1334+4289G>T	XP_011518135.1:n.1334+4289G>T
XM_017017072.1:c.1387G>T	XP_016872561.1:p.Glu463Ter
XM_017017073.1:c.1330G>T	XP_016872562.1:p.Glu444Ter
XM_017017074.1:c.1387G>T	XP_016872563.1:p.Glu463Ter
XM_017017075.1:c.1363G>T	XP_016872564.1:p.Glu455Ter
XR_001747717.2:n.1443+4289G>T
XR_930841.1:n.1605G>T
XR_930842.1:n.1546G>T