Canonical Allele Identifier: CA674236221

Gene: USH1C

Linked Data

• dbSNP Id: rs765993333
• gnomAD v3: 11-17501245-G-T
• gnomAD v4: 11-17501245-G-T
• MyVariant Identifiers: chr11:g.17522792G>T (hg19) ; chr11:g.17501245G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501245G>T , CM000673.2:g.17501245G>T	GRCh38
NC_000011.9:g.17522792G>T , CM000673.1:g.17522792G>T	GRCh37
NC_000011.8:g.17479368G>T	NCBI36
NG_011883.1:g.48172C>A
NG_011883.2:g.48172C>A

Transcript Alleles

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