Canonical Allele Identifier: CA2612673119

Gene: USH1C

Linked Data

• gnomAD v4: 11-17500958-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17500958C>A , CM000673.2:g.17500958C>A	GRCh38
NC_000011.9:g.17522505C>A , CM000673.1:g.17522505C>A	GRCh37
NC_000011.8:g.17479081C>A	NCBI36
NG_011883.1:g.48459G>T
NG_011883.2:g.48459G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2380+93G>T MANE Select	ENSP00000005226.7:n.2380+93G>T
ENST00000318024.9:c.1480+93G>T MANE Plus Clinical	ENSP00000317018.4:n.1480+93G>T
ENST00000005226.11:c.2380+93G>T	ENSP00000005226.7:n.2380+93G>T
ENST00000318024.8:c.1480+93G>T	ENSP00000317018.4:n.1480+93G>T
ENST00000526313.5:c.*194+93G>T	ENSP00000432236.1:n.*194+93G>T
ENST00000527020.5:c.1423+93G>T	ENSP00000436934.1:n.1423+93G>T
ENST00000527720.5:c.1387+93G>T	ENSP00000432944.1:n.1387+93G>T
ENST00000529563.5:n.364+93G>T
NM_001297764.1:c.1423+93G>T	NP_001284693.1:n.1423+93G>T
NM_005709.3:c.1480+93G>T	NP_005700.2:n.1480+93G>T
NM_153676.3:c.2380+93G>T	NP_710142.1:n.2380+93G>T
NR_123738.1:n.1515+93G>T
XM_011519831.1:c.2404+93G>T	XP_011518133.1:n.2404+93G>T
XM_011519832.1:c.1633+93G>T	XP_011518134.1:n.1633+93G>T
XM_011519832.3:c.1633+93G>T	XP_011518134.1:n.1633+93G>T
XM_017017075.1:c.2380+93G>T	XP_016872564.1:n.2380+93G>T
XR_001747717.2:n.1639+93G>T
NM_153676.4:c.2380+93G>T MANE Select	NP_710142.1:n.2380+93G>T
NM_001297764.2:c.1423+93G>T	NP_001284693.1:n.1423+93G>T
NM_005709.4:c.1480+93G>T MANE Plus Clinical	NP_005700.2:n.1480+93G>T
NR_123738.2:n.1515+93G>T