Canonical Allele Identifier: CA2556995303

Gene: USH1C

Linked Data

• dbSNP Id: rs2133785511
• gnomAD v3: 11-17501408-A-C
• gnomAD v4: 11-17501408-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501408A>C , CM000673.2:g.17501408A>C	GRCh38
NC_000011.9:g.17522955A>C , CM000673.1:g.17522955A>C	GRCh37
NC_000011.8:g.17479531A>C	NCBI36
NG_011883.1:g.48009T>G
NG_011883.2:g.48009T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2280+74T>G MANE Select	ENSP00000005226.7:n.2280+74T>G
ENST00000318024.9:c.1380+74T>G MANE Plus Clinical	ENSP00000317018.4:n.1380+74T>G
ENST00000005226.11:c.2280+74T>G	ENSP00000005226.7:n.2280+74T>G
ENST00000318024.8:c.1380+74T>G	ENSP00000317018.4:n.1380+74T>G
ENST00000526313.5:c.*94+74T>G	ENSP00000432236.1:n.*94+74T>G
ENST00000527020.5:c.1323+74T>G	ENSP00000436934.1:n.1323+74T>G
ENST00000527720.5:c.1287+74T>G	ENSP00000432944.1:n.1287+74T>G
ENST00000529563.5:n.264+74T>G
ENST00000534556.1:n.165+74T>G
NM_001297764.1:c.1323+74T>G	NP_001284693.1:n.1323+74T>G
NM_005709.3:c.1380+74T>G	NP_005700.2:n.1380+74T>G
NM_153676.3:c.2280+74T>G	NP_710142.1:n.2280+74T>G
NR_123738.1:n.1415+74T>G
XM_011519831.1:c.2304+74T>G	XP_011518133.1:n.2304+74T>G
XM_011519832.1:c.1533+74T>G	XP_011518134.1:n.1533+74T>G
XM_011519833.1:c.1430+74T>G	XP_011518135.1:n.1430+74T>G
XR_930841.1:n.1751+74T>G
XR_930842.1:n.1692+74T>G
XM_011519832.3:c.1533+74T>G	XP_011518134.1:n.1533+74T>G
XM_017017075.1:c.2280+74T>G	XP_016872564.1:n.2280+74T>G
XR_001747717.2:n.1539+74T>G
NM_153676.4:c.2280+74T>G MANE Select	NP_710142.1:n.2280+74T>G
NM_001297764.2:c.1323+74T>G	NP_001284693.1:n.1323+74T>G
NM_005709.4:c.1380+74T>G MANE Plus Clinical	NP_005700.2:n.1380+74T>G
NR_123738.2:n.1415+74T>G