Canonical Allele Identifier: CA1955173246

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501134A= , CM000673.2:g.17501134A=	GRCh38
NC_000011.9:g.17522681A= , CM000673.1:g.17522681A=	GRCh37
NC_000011.8:g.17479257A=	NCBI36
NG_011883.1:g.48283T=
NG_011883.2:g.48283T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2297T= MANE Select	ENSP00000005226.7:p.Leu766=
ENST00000318024.9:c.1397T= MANE Plus Clinical	ENSP00000317018.4:p.Leu466=
ENST00000005226.11:c.2297T=	ENSP00000005226.7:p.Leu766=
ENST00000318024.8:c.1397T=	ENSP00000317018.4:p.Leu466=
ENST00000526313.5:c.*111T=	ENSP00000432236.1:n.*111T=
ENST00000527020.5:c.1340T=	ENSP00000436934.1:p.Leu447=
ENST00000527720.5:c.1304T=	ENSP00000432944.1:p.Leu435=
ENST00000529563.5:n.281T=
ENST00000534556.1:n.182T=
NM_001297764.1:c.1340T=	NP_001284693.1:p.Leu447=
NM_005709.3:c.1397T=	NP_005700.2:p.Leu466=
NM_153676.3:c.2297T=	NP_710142.1:p.Leu766=
NR_123738.1:n.1432T=
XM_011519831.1:c.2321T=	XP_011518133.1:p.Leu774=
XM_011519832.1:c.1550T=	XP_011518134.1:p.Leu517=
XM_011519833.1:c.*4T=	XP_011518135.1:n.*4T=
XR_930841.1:n.1768T=
XR_930842.1:n.1709T=
XM_011519832.3:c.1550T=	XP_011518134.1:p.Leu517=
XM_017017075.1:c.2297T=	XP_016872564.1:p.Leu766=
XR_001747717.2:n.1556T=
NM_153676.4:c.2297T= MANE Select	NP_710142.1:p.Leu766=
NM_001297764.2:c.1340T=	NP_001284693.1:p.Leu447=
NM_005709.4:c.1397T= MANE Plus Clinical	NP_005700.2:p.Leu466=
NR_123738.2:n.1432T=