Canonical Allele Identifier: CA218486280

Gene: USH1C

Linked Data

• dbSNP Id: rs868121889
• MyVariant Identifiers: chr11:g.17522600T>A (hg19) ; chr11:g.17501053T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501053T>A , CM000673.2:g.17501053T>A	GRCh38
NC_000011.9:g.17522600T>A , CM000673.1:g.17522600T>A	GRCh37
NC_000011.8:g.17479176T>A	NCBI36
NG_011883.1:g.48364A>T
NG_011883.2:g.48364A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2378A>T MANE Select	ENSP00000005226.7:p.His793Leu
ENST00000318024.9:c.1478A>T MANE Plus Clinical	ENSP00000317018.4:p.His493Leu
ENST00000005226.11:c.2378A>T	ENSP00000005226.7:p.His793Leu
ENST00000318024.8:c.1478A>T	ENSP00000317018.4:p.His493Leu
ENST00000526313.5:c.*192A>T	ENSP00000432236.1:n.*192A>T
ENST00000527020.5:c.1421A>T	ENSP00000436934.1:p.His474Leu
ENST00000527720.5:c.1385A>T	ENSP00000432944.1:p.His462Leu
ENST00000529563.5:n.362A>T
NM_001297764.1:c.1421A>T	NP_001284693.1:p.His474Leu
NM_005709.3:c.1478A>T	NP_005700.2:p.His493Leu
NM_153676.3:c.2378A>T	NP_710142.1:p.His793Leu
NR_123738.1:n.1513A>T
XM_011519831.1:c.2402A>T	XP_011518133.1:p.His801Leu
XM_011519832.1:c.1631A>T	XP_011518134.1:p.His544Leu
XM_011519833.1:c.*85A>T	XP_011518135.1:n.*85A>T
XR_930841.1:n.1849A>T
XR_930842.1:n.1790A>T
XM_011519832.3:c.1631A>T	XP_011518134.1:p.His544Leu
XM_017017075.1:c.2378A>T	XP_016872564.1:p.His793Leu
XR_001747717.2:n.1637A>T
NM_153676.4:c.2378A>T MANE Select	NP_710142.1:p.His793Leu
NM_001297764.2:c.1421A>T	NP_001284693.1:p.His474Leu
NM_005709.4:c.1478A>T MANE Plus Clinical	NP_005700.2:p.His493Leu
NR_123738.2:n.1513A>T