Canonical Allele Identifier: CA1955173457

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501516A= , CM000673.2:g.17501516A=	GRCh38
NC_000011.9:g.17523063A= , CM000673.1:g.17523063A=	GRCh37
NC_000011.8:g.17479639A=	NCBI36
NG_011883.1:g.47901T=
NG_011883.2:g.47901T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2246T= MANE Select	ENSP00000005226.7:p.Met749=
ENST00000318024.9:c.1346T= MANE Plus Clinical	ENSP00000317018.4:p.Met449=
ENST00000005226.11:c.2246T=	ENSP00000005226.7:p.Met749=
ENST00000318024.8:c.1346T=	ENSP00000317018.4:p.Met449=
ENST00000526313.5:c.*60T=	ENSP00000432236.1:n.*60T=
ENST00000527020.5:c.1289T=	ENSP00000436934.1:p.Met430=
ENST00000527720.5:c.1253T=	ENSP00000432944.1:p.Met418=
ENST00000529563.5:n.230T=
ENST00000534556.1:n.131T=
NM_001297764.1:c.1289T=	NP_001284693.1:p.Met430=
NM_005709.3:c.1346T=	NP_005700.2:p.Met449=
NM_153676.3:c.2246T=	NP_710142.1:p.Met749=
NR_123738.1:n.1381T=
XM_011519831.1:c.2270T=	XP_011518133.1:p.Met757=
XM_011519832.1:c.1499T=	XP_011518134.1:p.Met500=
XM_011519833.1:c.1396T=	XP_011518135.1:p.Trp466=
XR_930841.1:n.1717T=
XR_930842.1:n.1658T=
XM_011519832.3:c.1499T=	XP_011518134.1:p.Met500=
XM_017017075.1:c.2246T=	XP_016872564.1:p.Met749=
XR_001747717.2:n.1505T=
NM_153676.4:c.2246T= MANE Select	NP_710142.1:p.Met749=
NM_001297764.2:c.1289T=	NP_001284693.1:p.Met430=
NM_005709.4:c.1346T= MANE Plus Clinical	NP_005700.2:p.Met449=
NR_123738.2:n.1381T=