Canonical Allele Identifier: CA2612673649

Gene: USH1C

Linked Data

• gnomAD v4: 11-17501270-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501270C>A , CM000673.2:g.17501270C>A	GRCh38
NC_000011.9:g.17522817C>A , CM000673.1:g.17522817C>A	GRCh37
NC_000011.8:g.17479393C>A	NCBI36
NG_011883.1:g.48147G>T
NG_011883.2:g.48147G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2281-120G>T MANE Select	ENSP00000005226.7:n.2281-120G>T
ENST00000318024.9:c.1381-120G>T MANE Plus Clinical	ENSP00000317018.4:n.1381-120G>T
ENST00000005226.11:c.2281-120G>T	ENSP00000005226.7:n.2281-120G>T
ENST00000318024.8:c.1381-120G>T	ENSP00000317018.4:n.1381-120G>T
ENST00000526313.5:c.*95-120G>T	ENSP00000432236.1:n.*95-120G>T
ENST00000527020.5:c.1324-120G>T	ENSP00000436934.1:n.1324-120G>T
ENST00000527720.5:c.1288-120G>T	ENSP00000432944.1:n.1288-120G>T
ENST00000529563.5:n.265-120G>T
ENST00000534556.1:n.166-120G>T
NM_001297764.1:c.1324-120G>T	NP_001284693.1:n.1324-120G>T
NM_005709.3:c.1381-120G>T	NP_005700.2:n.1381-120G>T
NM_153676.3:c.2281-120G>T	NP_710142.1:n.2281-120G>T
NR_123738.1:n.1416-120G>T
XM_011519831.1:c.2305-120G>T	XP_011518133.1:n.2305-120G>T
XM_011519832.1:c.1534-120G>T	XP_011518134.1:n.1534-120G>T
XM_011519833.1:c.1431-120G>T	XP_011518135.1:n.1431-120G>T
XR_930841.1:n.1752-120G>T
XR_930842.1:n.1693-120G>T
XM_011519832.3:c.1534-120G>T	XP_011518134.1:n.1534-120G>T
XM_017017075.1:c.2281-120G>T	XP_016872564.1:n.2281-120G>T
XR_001747717.2:n.1540-120G>T
NM_153676.4:c.2281-120G>T MANE Select	NP_710142.1:n.2281-120G>T
NM_001297764.2:c.1324-120G>T	NP_001284693.1:n.1324-120G>T
NM_005709.4:c.1381-120G>T MANE Plus Clinical	NP_005700.2:n.1381-120G>T
NR_123738.2:n.1416-120G>T