Canonical Allele Identifier: CA1955171740

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498247A= , CM000673.2:g.17498247A=	GRCh38
NC_000011.9:g.17519794A= , CM000673.1:g.17519794A=	GRCh37
NC_000011.8:g.17476370A=	NCBI36
NG_011883.1:g.51170T=
NG_011883.2:g.51170T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2405T= MANE Select	ENSP00000005226.7:p.Ile802=
ENST00000318024.9:c.1505T= MANE Plus Clinical	ENSP00000317018.4:p.Ile502=
ENST00000005226.11:c.2405T=	ENSP00000005226.7:p.Ile802=
ENST00000318024.8:c.1505T=	ENSP00000317018.4:p.Ile502=
ENST00000526313.5:c.*219T=	ENSP00000432236.1:n.*219T=
ENST00000527020.5:c.1448T=	ENSP00000436934.1:p.Ile483=
ENST00000527720.5:c.1412T=	ENSP00000432944.1:p.Ile471=
ENST00000529563.5:n.389T=
NM_001297764.1:c.1448T=	NP_001284693.1:p.Ile483=
NM_005709.3:c.1505T=	NP_005700.2:p.Ile502=
NM_153676.3:c.2405T=	NP_710142.1:p.Ile802=
NR_123738.1:n.1540T=
XM_011519831.1:c.2429T=	XP_011518133.1:p.Ile810=
XM_011519832.1:c.1658T=	XP_011518134.1:p.Ile553=
XM_011519832.3:c.1658T=	XP_011518134.1:p.Ile553=
XM_017017075.1:c.2405T=	XP_016872564.1:p.Ile802=
XR_001747717.2:n.1664T=
NM_153676.4:c.2405T= MANE Select	NP_710142.1:p.Ile802=
NM_001297764.2:c.1448T=	NP_001284693.1:p.Ile483=
NM_005709.4:c.1505T= MANE Plus Clinical	NP_005700.2:p.Ile502=
NR_123738.2:n.1540T=