Canonical Allele Identifier: CA1955173346

Gene: USH1C

Linked Data

• dbSNP Id: rs1849435447
• gnomAD v4: 11-17501330-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501330C>A , CM000673.2:g.17501330C>A	GRCh38
NC_000011.9:g.17522877C>A , CM000673.1:g.17522877C>A	GRCh37
NC_000011.8:g.17479453C>A	NCBI36
NG_011883.1:g.48087G>T
NG_011883.2:g.48087G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2280+152G>T MANE Select	ENSP00000005226.7:n.2280+152G>T
ENST00000318024.9:c.1380+152G>T MANE Plus Clinical	ENSP00000317018.4:n.1380+152G>T
ENST00000005226.11:c.2280+152G>T	ENSP00000005226.7:n.2280+152G>T
ENST00000318024.8:c.1380+152G>T	ENSP00000317018.4:n.1380+152G>T
ENST00000526313.5:c.*94+152G>T	ENSP00000432236.1:n.*94+152G>T
ENST00000527020.5:c.1323+152G>T	ENSP00000436934.1:n.1323+152G>T
ENST00000527720.5:c.1287+152G>T	ENSP00000432944.1:n.1287+152G>T
ENST00000529563.5:n.264+152G>T
ENST00000534556.1:n.165+152G>T
NM_001297764.1:c.1323+152G>T	NP_001284693.1:n.1323+152G>T
NM_005709.3:c.1380+152G>T	NP_005700.2:n.1380+152G>T
NM_153676.3:c.2280+152G>T	NP_710142.1:n.2280+152G>T
NR_123738.1:n.1415+152G>T
XM_011519831.1:c.2304+152G>T	XP_011518133.1:n.2304+152G>T
XM_011519832.1:c.1533+152G>T	XP_011518134.1:n.1533+152G>T
XM_011519833.1:c.1430+152G>T	XP_011518135.1:n.1430+152G>T
XR_930841.1:n.1751+152G>T
XR_930842.1:n.1692+152G>T
XM_011519832.3:c.1533+152G>T	XP_011518134.1:n.1533+152G>T
XM_017017075.1:c.2280+152G>T	XP_016872564.1:n.2280+152G>T
XR_001747717.2:n.1539+152G>T
NM_153676.4:c.2280+152G>T MANE Select	NP_710142.1:n.2280+152G>T
NM_001297764.2:c.1323+152G>T	NP_001284693.1:n.1323+152G>T
NM_005709.4:c.1380+152G>T MANE Plus Clinical	NP_005700.2:n.1380+152G>T
NR_123738.2:n.1415+152G>T