Canonical Allele Identifier: CA1955171734

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498234G= , CM000673.2:g.17498234G=	GRCh38
NC_000011.9:g.17519781G= , CM000673.1:g.17519781G=	GRCh37
NC_000011.8:g.17476357G=	NCBI36
NG_011883.1:g.51183C=
NG_011883.2:g.51183C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2418C= MANE Select	ENSP00000005226.7:p.Asn806=
ENST00000318024.9:c.1518C= MANE Plus Clinical	ENSP00000317018.4:p.Asn506=
ENST00000005226.11:c.2418C=	ENSP00000005226.7:p.Asn806=
ENST00000318024.8:c.1518C=	ENSP00000317018.4:p.Asn506=
ENST00000526313.5:c.*232C=	ENSP00000432236.1:n.*232C=
ENST00000527020.5:c.1461C=	ENSP00000436934.1:p.Asn487=
ENST00000527720.5:c.1425C=	ENSP00000432944.1:p.Asn475=
ENST00000529563.5:n.402C=
NM_001297764.1:c.1461C=	NP_001284693.1:p.Asn487=
NM_005709.3:c.1518C=	NP_005700.2:p.Asn506=
NM_153676.3:c.2418C=	NP_710142.1:p.Asn806=
NR_123738.1:n.1553C=
XM_011519831.1:c.2442C=	XP_011518133.1:p.Asn814=
XM_011519832.1:c.1671C=	XP_011518134.1:p.Asn557=
XM_011519832.3:c.1671C=	XP_011518134.1:p.Asn557=
XM_017017075.1:c.2418C=	XP_016872564.1:p.Asn806=
XR_001747717.2:n.1677C=
NM_153676.4:c.2418C= MANE Select	NP_710142.1:p.Asn806=
NM_001297764.2:c.1461C=	NP_001284693.1:p.Asn487=
NM_005709.4:c.1518C= MANE Plus Clinical	NP_005700.2:p.Asn506=
NR_123738.2:n.1553C=