Canonical Allele Identifier: CA473305280

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522632A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501085A>C , CM000673.2:g.17501085A>C	GRCh38
NC_000011.9:g.17522632A>C , CM000673.1:g.17522632A>C	GRCh37
NC_000011.8:g.17479208A>C	NCBI36
NG_011883.1:g.48332T>G
NG_011883.2:g.48332T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2346T>G MANE Select	ENSP00000005226.7:p.Ser782=
ENST00000318024.9:c.1446T>G MANE Plus Clinical	ENSP00000317018.4:p.Ser482=
ENST00000005226.11:c.2346T>G	ENSP00000005226.7:p.Ser782=
ENST00000318024.8:c.1446T>G	ENSP00000317018.4:p.Ser482=
ENST00000526313.5:c.*160T>G	ENSP00000432236.1:n.*160T>G
ENST00000527020.5:c.1389T>G	ENSP00000436934.1:p.Ser463=
ENST00000527720.5:c.1353T>G	ENSP00000432944.1:p.Ser451=
ENST00000529563.5:n.330T>G
ENST00000534556.1:n.231T>G
NM_001297764.1:c.1389T>G	NP_001284693.1:p.Ser463=
NM_005709.3:c.1446T>G	NP_005700.2:p.Ser482=
NM_153676.3:c.2346T>G	NP_710142.1:p.Ser782=
NR_123738.1:n.1481T>G
XM_011519831.1:c.2370T>G	XP_011518133.1:p.Ser790=
XM_011519832.1:c.1599T>G	XP_011518134.1:p.Ser533=
XM_011519833.1:c.*53T>G	XP_011518135.1:n.*53T>G
XR_930841.1:n.1817T>G
XR_930842.1:n.1758T>G
XM_011519832.3:c.1599T>G	XP_011518134.1:p.Ser533=
XM_017017075.1:c.2346T>G	XP_016872564.1:p.Ser782=
XR_001747717.2:n.1605T>G
NM_153676.4:c.2346T>G MANE Select	NP_710142.1:p.Ser782=
NM_001297764.2:c.1389T>G	NP_001284693.1:p.Ser463=
NM_005709.4:c.1446T>G MANE Plus Clinical	NP_005700.2:p.Ser482=
NR_123738.2:n.1481T>G