Canonical Allele Identifier: CA379802914

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522607C>G (hg19) ; chr11:g.17501060C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501060C>G , CM000673.2:g.17501060C>G	GRCh38
NC_000011.9:g.17522607C>G , CM000673.1:g.17522607C>G	GRCh37
NC_000011.8:g.17479183C>G	NCBI36
NG_011883.1:g.48357G>C
NG_011883.2:g.48357G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2371G>C MANE Select	ENSP00000005226.7:p.Glu791Gln
ENST00000318024.9:c.1471G>C MANE Plus Clinical	ENSP00000317018.4:p.Glu491Gln
ENST00000005226.11:c.2371G>C	ENSP00000005226.7:p.Glu791Gln
ENST00000318024.8:c.1471G>C	ENSP00000317018.4:p.Glu491Gln
ENST00000526313.5:c.*185G>C	ENSP00000432236.1:n.*185G>C
ENST00000527020.5:c.1414G>C	ENSP00000436934.1:p.Glu472Gln
ENST00000527720.5:c.1378G>C	ENSP00000432944.1:p.Glu460Gln
ENST00000529563.5:n.355G>C
NM_001297764.1:c.1414G>C	NP_001284693.1:p.Glu472Gln
NM_005709.3:c.1471G>C	NP_005700.2:p.Glu491Gln
NM_153676.3:c.2371G>C	NP_710142.1:p.Glu791Gln
NR_123738.1:n.1506G>C
XM_011519831.1:c.2395G>C	XP_011518133.1:p.Glu799Gln
XM_011519832.1:c.1624G>C	XP_011518134.1:p.Glu542Gln
XM_011519833.1:c.*78G>C	XP_011518135.1:n.*78G>C
XR_930841.1:n.1842G>C
XR_930842.1:n.1783G>C
XM_011519832.3:c.1624G>C	XP_011518134.1:p.Glu542Gln
XM_017017075.1:c.2371G>C	XP_016872564.1:p.Glu791Gln
XR_001747717.2:n.1630G>C
NM_153676.4:c.2371G>C MANE Select	NP_710142.1:p.Glu791Gln
NM_001297764.2:c.1414G>C	NP_001284693.1:p.Glu472Gln
NM_005709.4:c.1471G>C MANE Plus Clinical	NP_005700.2:p.Glu491Gln
NR_123738.2:n.1506G>C