Canonical Allele Identifier: CA379803667

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501536C>T , CM000673.2:g.17501536C>T	GRCh38
NC_000011.9:g.17523083C>T , CM000673.1:g.17523083C>T	GRCh37
NC_000011.8:g.17479659C>T	NCBI36
NG_011883.1:g.47881G>A
NG_011883.2:g.47881G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153676.4:c.2227-1G>A MANE Select	NP_710142.1:n.2227-1G>A
ENST00000005226.12:c.2227-1G>A MANE Select	ENSP00000005226.7:n.2227-1G>A
NM_005709.4:c.1327-1G>A MANE Plus Clinical	NP_005700.2:n.1327-1G>A
ENST00000318024.9:c.1327-1G>A MANE Plus Clinical	ENSP00000317018.4:n.1327-1G>A
NM_001297764.1:c.1270-1G>A	NP_001284693.1:n.1270-1G>A
NM_001297764.2:c.1270-1G>A	NP_001284693.1:n.1270-1G>A
NM_005709.3:c.1327-1G>A	NP_005700.2:n.1327-1G>A
NM_153676.3:c.2227-1G>A	NP_710142.1:n.2227-1G>A
NR_123738.1:n.1362-1G>A
NR_123738.2:n.1362-1G>A
ENST00000005226.11:c.2227-1G>A	ENSP00000005226.7:n.2227-1G>A
ENST00000318024.8:c.1327-1G>A	ENSP00000317018.4:n.1327-1G>A
ENST00000526313.5:c.*41-1G>A	ENSP00000432236.1:n.*41-1G>A
ENST00000527020.5:c.1270-1G>A	ENSP00000436934.1:n.1270-1G>A
ENST00000527720.5:c.1234-1G>A	ENSP00000432944.1:n.1234-1G>A
ENST00000529563.5:n.211-1G>A
ENST00000534556.1:n.112-1G>A
XM_011519831.1:c.2251-1G>A	XP_011518133.1:n.2251-1G>A
XM_011519832.1:c.1480-1G>A	XP_011518134.1:n.1480-1G>A
XM_011519832.3:c.1480-1G>A	XP_011518134.1:n.1480-1G>A
XM_011519833.1:c.1377-1G>A	XP_011518135.1:n.1377-1G>A
XM_017017075.1:c.2227-1G>A	XP_016872564.1:n.2227-1G>A
XR_001747717.2:n.1486-1G>A
XR_930841.1:n.1698-1G>A
XR_930842.1:n.1639-1G>A