Canonical Allele Identifier: CA379802884

Gene: USH1C

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2378A>C MANE Select	ENSP00000005226.7:p.His793Pro
ENST00000318024.9:c.1478A>C MANE Plus Clinical	ENSP00000317018.4:p.His493Pro
ENST00000005226.11:c.2378A>C	ENSP00000005226.7:p.His793Pro
ENST00000318024.8:c.1478A>C	ENSP00000317018.4:p.His493Pro
ENST00000526313.5:c.*192A>C	ENSP00000432236.1:n.*192A>C
ENST00000527020.5:c.1421A>C	ENSP00000436934.1:p.His474Pro
ENST00000527720.5:c.1385A>C	ENSP00000432944.1:p.His462Pro
ENST00000529563.5:n.362A>C
NM_001297764.1:c.1421A>C	NP_001284693.1:p.His474Pro
NM_005709.3:c.1478A>C	NP_005700.2:p.His493Pro
NM_153676.3:c.2378A>C	NP_710142.1:p.His793Pro
NR_123738.1:n.1513A>C
XM_011519831.1:c.2402A>C	XP_011518133.1:p.His801Pro
XM_011519832.1:c.1631A>C	XP_011518134.1:p.His544Pro
XM_011519833.1:c.*85A>C	XP_011518135.1:n.*85A>C
XR_930841.1:n.1849A>C
XR_930842.1:n.1790A>C
XM_011519832.3:c.1631A>C	XP_011518134.1:p.His544Pro
XM_017017075.1:c.2378A>C	XP_016872564.1:p.His793Pro
XR_001747717.2:n.1637A>C
NM_153676.4:c.2378A>C MANE Select	NP_710142.1:p.His793Pro
NM_001297764.2:c.1421A>C	NP_001284693.1:p.His474Pro
NM_005709.4:c.1478A>C MANE Plus Clinical	NP_005700.2:p.His493Pro
NR_123738.2:n.1513A>C