Canonical Allele Identifier: CA1955173460

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501519A= , CM000673.2:g.17501519A=	GRCh38
NC_000011.9:g.17523066A= , CM000673.1:g.17523066A=	GRCh37
NC_000011.8:g.17479642A=	NCBI36
NG_011883.1:g.47898T=
NG_011883.2:g.47898T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2243T= MANE Select	ENSP00000005226.7:p.Ile748=
ENST00000318024.9:c.1343T= MANE Plus Clinical	ENSP00000317018.4:p.Ile448=
ENST00000005226.11:c.2243T=	ENSP00000005226.7:p.Ile748=
ENST00000318024.8:c.1343T=	ENSP00000317018.4:p.Ile448=
ENST00000526313.5:c.*57T=	ENSP00000432236.1:n.*57T=
ENST00000527020.5:c.1286T=	ENSP00000436934.1:p.Ile429=
ENST00000527720.5:c.1250T=	ENSP00000432944.1:p.Ile417=
ENST00000529563.5:n.227T=
ENST00000534556.1:n.128T=
NM_001297764.1:c.1286T=	NP_001284693.1:p.Ile429=
NM_005709.3:c.1343T=	NP_005700.2:p.Ile448=
NM_153676.3:c.2243T=	NP_710142.1:p.Ile748=
NR_123738.1:n.1378T=
XM_011519831.1:c.2267T=	XP_011518133.1:p.Ile756=
XM_011519832.1:c.1496T=	XP_011518134.1:p.Ile499=
XM_011519833.1:c.1393T=	XP_011518135.1:p.Ser465=
XR_930841.1:n.1714T=
XR_930842.1:n.1655T=
XM_011519832.3:c.1496T=	XP_011518134.1:p.Ile499=
XM_017017075.1:c.2243T=	XP_016872564.1:p.Ile748=
XR_001747717.2:n.1502T=
NM_153676.4:c.2243T= MANE Select	NP_710142.1:p.Ile748=
NM_001297764.2:c.1286T=	NP_001284693.1:p.Ile429=
NM_005709.4:c.1343T= MANE Plus Clinical	NP_005700.2:p.Ile448=
NR_123738.2:n.1378T=