Canonical Allele Identifier: CA379802908

Gene: USH1C

Linked Data

• dbSNP Id: rs1356054172
• MyVariant Identifiers: chr11:g.17522606T>C (hg19) ; chr11:g.17501059T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501059T>C , CM000673.2:g.17501059T>C	GRCh38
NC_000011.9:g.17522606T>C , CM000673.1:g.17522606T>C	GRCh37
NC_000011.8:g.17479182T>C	NCBI36
NG_011883.1:g.48358A>G
NG_011883.2:g.48358A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2372A>G MANE Select	ENSP00000005226.7:p.Glu791Gly
ENST00000318024.9:c.1472A>G MANE Plus Clinical	ENSP00000317018.4:p.Glu491Gly
ENST00000005226.11:c.2372A>G	ENSP00000005226.7:p.Glu791Gly
ENST00000318024.8:c.1472A>G	ENSP00000317018.4:p.Glu491Gly
ENST00000526313.5:c.*186A>G	ENSP00000432236.1:n.*186A>G
ENST00000527020.5:c.1415A>G	ENSP00000436934.1:p.Glu472Gly
ENST00000527720.5:c.1379A>G	ENSP00000432944.1:p.Glu460Gly
ENST00000529563.5:n.356A>G
NM_001297764.1:c.1415A>G	NP_001284693.1:p.Glu472Gly
NM_005709.3:c.1472A>G	NP_005700.2:p.Glu491Gly
NM_153676.3:c.2372A>G	NP_710142.1:p.Glu791Gly
NR_123738.1:n.1507A>G
XM_011519831.1:c.2396A>G	XP_011518133.1:p.Glu799Gly
XM_011519832.1:c.1625A>G	XP_011518134.1:p.Glu542Gly
XM_011519833.1:c.*79A>G	XP_011518135.1:n.*79A>G
XR_930841.1:n.1843A>G
XR_930842.1:n.1784A>G
XM_011519832.3:c.1625A>G	XP_011518134.1:p.Glu542Gly
XM_017017075.1:c.2372A>G	XP_016872564.1:p.Glu791Gly
XR_001747717.2:n.1631A>G
NM_153676.4:c.2372A>G MANE Select	NP_710142.1:p.Glu791Gly
NM_001297764.2:c.1415A>G	NP_001284693.1:p.Glu472Gly
NM_005709.4:c.1472A>G MANE Plus Clinical	NP_005700.2:p.Glu491Gly
NR_123738.2:n.1507A>G