Canonical Allele Identifier: CA473305264

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522614T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501067T>C , CM000673.2:g.17501067T>C	GRCh38
NC_000011.9:g.17522614T>C , CM000673.1:g.17522614T>C	GRCh37
NC_000011.8:g.17479190T>C	NCBI36
NG_011883.1:g.48350A>G
NG_011883.2:g.48350A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2364A>G MANE Select	ENSP00000005226.7:p.Gly788=
ENST00000318024.9:c.1464A>G MANE Plus Clinical	ENSP00000317018.4:p.Gly488=
ENST00000005226.11:c.2364A>G	ENSP00000005226.7:p.Gly788=
ENST00000318024.8:c.1464A>G	ENSP00000317018.4:p.Gly488=
ENST00000526313.5:c.*178A>G	ENSP00000432236.1:n.*178A>G
ENST00000527020.5:c.1407A>G	ENSP00000436934.1:p.Gly469=
ENST00000527720.5:c.1371A>G	ENSP00000432944.1:p.Gly457=
ENST00000529563.5:n.348A>G
NM_001297764.1:c.1407A>G	NP_001284693.1:p.Gly469=
NM_005709.3:c.1464A>G	NP_005700.2:p.Gly488=
NM_153676.3:c.2364A>G	NP_710142.1:p.Gly788=
NR_123738.1:n.1499A>G
XM_011519831.1:c.2388A>G	XP_011518133.1:p.Gly796=
XM_011519832.1:c.1617A>G	XP_011518134.1:p.Gly539=
XM_011519833.1:c.*71A>G	XP_011518135.1:n.*71A>G
XR_930841.1:n.1835A>G
XR_930842.1:n.1776A>G
XM_011519832.3:c.1617A>G	XP_011518134.1:p.Gly539=
XM_017017075.1:c.2364A>G	XP_016872564.1:p.Gly788=
XR_001747717.2:n.1623A>G
NM_153676.4:c.2364A>G MANE Select	NP_710142.1:p.Gly788=
NM_001297764.2:c.1407A>G	NP_001284693.1:p.Gly469=
NM_005709.4:c.1464A>G MANE Plus Clinical	NP_005700.2:p.Gly488=
NR_123738.2:n.1499A>G