Canonical Allele Identifier: CA379803332

Gene: USH1C

Linked Data

• ClinVar Variation Id: 1724490
• ClinVar RCV Id: RCV002309758
• MyVariant Identifiers: chr11:g.17523034T>A (hg19) ; chr11:g.17501487T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501487T>A , CM000673.2:g.17501487T>A	GRCh38
NC_000011.9:g.17523034T>A , CM000673.1:g.17523034T>A	GRCh37
NC_000011.8:g.17479610T>A	NCBI36
NG_011883.1:g.47930A>T
NG_011883.2:g.47930A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2275A>T MANE Select	ENSP00000005226.7:p.Lys759Ter
ENST00000318024.9:c.1375A>T MANE Plus Clinical	ENSP00000317018.4:p.Lys459Ter
ENST00000005226.11:c.2275A>T	ENSP00000005226.7:p.Lys759Ter
ENST00000318024.8:c.1375A>T	ENSP00000317018.4:p.Lys459Ter
ENST00000526313.5:c.*89A>T	ENSP00000432236.1:n.*89A>T
ENST00000527020.5:c.1318A>T	ENSP00000436934.1:p.Lys440Ter
ENST00000527720.5:c.1282A>T	ENSP00000432944.1:p.Lys428Ter
ENST00000529563.5:n.259A>T
ENST00000534556.1:n.160A>T
NM_001297764.1:c.1318A>T	NP_001284693.1:p.Lys440Ter
NM_005709.3:c.1375A>T	NP_005700.2:p.Lys459Ter
NM_153676.3:c.2275A>T	NP_710142.1:p.Lys759Ter
NR_123738.1:n.1410A>T
XM_011519831.1:c.2299A>T	XP_011518133.1:p.Lys767Ter
XM_011519832.1:c.1528A>T	XP_011518134.1:p.Lys510Ter
XM_011519833.1:c.1425A>T	XP_011518135.1:p.Ser475=
XR_930841.1:n.1746A>T
XR_930842.1:n.1687A>T
XM_011519832.3:c.1528A>T	XP_011518134.1:p.Lys510Ter
XM_017017075.1:c.2275A>T	XP_016872564.1:p.Lys759Ter
XR_001747717.2:n.1534A>T
NM_153676.4:c.2275A>T MANE Select	NP_710142.1:p.Lys759Ter
NM_001297764.2:c.1318A>T	NP_001284693.1:p.Lys440Ter
NM_005709.4:c.1375A>T MANE Plus Clinical	NP_005700.2:p.Lys459Ter
NR_123738.2:n.1410A>T