Canonical Allele Identifier: CA5904203

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501057G>A , CM000673.2:g.17501057G>A	GRCh38
NC_000011.9:g.17522604G>A , CM000673.1:g.17522604G>A	GRCh37
NC_000011.8:g.17479180G>A	NCBI36
NG_011883.1:g.48360C>T
NG_011883.2:g.48360C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153676.4:c.2374C>T MANE Select	NP_710142.1:p.Arg792Trp
ENST00000005226.12:c.2374C>T MANE Select	ENSP00000005226.7:p.Arg792Trp
NM_005709.4:c.1474C>T MANE Plus Clinical	NP_005700.2:p.Arg492Trp
ENST00000318024.9:c.1474C>T MANE Plus Clinical	ENSP00000317018.4:p.Arg492Trp
NM_001297764.1:c.1417C>T	NP_001284693.1:p.Arg473Trp
NM_001297764.2:c.1417C>T	NP_001284693.1:p.Arg473Trp
NM_005709.3:c.1474C>T	NP_005700.2:p.Arg492Trp
NM_153676.3:c.2374C>T	NP_710142.1:p.Arg792Trp
NR_123738.1:n.1509C>T
NR_123738.2:n.1509C>T
ENST00000005226.11:c.2374C>T	ENSP00000005226.7:p.Arg792Trp
ENST00000318024.8:c.1474C>T	ENSP00000317018.4:p.Arg492Trp
ENST00000526313.5:c.*188C>T	ENSP00000432236.1:n.*188C>T
ENST00000527020.5:c.1417C>T	ENSP00000436934.1:p.Arg473Trp
ENST00000527720.5:c.1381C>T	ENSP00000432944.1:p.Arg461Trp
ENST00000529563.5:n.358C>T
XM_011519831.1:c.2398C>T	XP_011518133.1:p.Arg800Trp
XM_011519832.1:c.1627C>T	XP_011518134.1:p.Arg543Trp
XM_011519832.3:c.1627C>T	XP_011518134.1:p.Arg543Trp
XM_011519833.1:c.*81C>T	XP_011518135.1:n.*81C>T
XM_017017075.1:c.2374C>T	XP_016872564.1:p.Arg792Trp
XR_001747717.2:n.1633C>T
XR_930841.1:n.1845C>T
XR_930842.1:n.1786C>T