Canonical Allele Identifier: CA379803099

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522658A>T (hg19) ; chr11:g.17501111A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501111A>T , CM000673.2:g.17501111A>T	GRCh38
NC_000011.9:g.17522658A>T , CM000673.1:g.17522658A>T	GRCh37
NC_000011.8:g.17479234A>T	NCBI36
NG_011883.1:g.48306T>A
NG_011883.2:g.48306T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2320T>A MANE Select	ENSP00000005226.7:p.Ser774Thr
ENST00000318024.9:c.1420T>A MANE Plus Clinical	ENSP00000317018.4:p.Ser474Thr
ENST00000005226.11:c.2320T>A	ENSP00000005226.7:p.Ser774Thr
ENST00000318024.8:c.1420T>A	ENSP00000317018.4:p.Ser474Thr
ENST00000526313.5:c.*134T>A	ENSP00000432236.1:n.*134T>A
ENST00000527020.5:c.1363T>A	ENSP00000436934.1:p.Ser455Thr
ENST00000527720.5:c.1327T>A	ENSP00000432944.1:p.Ser443Thr
ENST00000529563.5:n.304T>A
ENST00000534556.1:n.205T>A
NM_001297764.1:c.1363T>A	NP_001284693.1:p.Ser455Thr
NM_005709.3:c.1420T>A	NP_005700.2:p.Ser474Thr
NM_153676.3:c.2320T>A	NP_710142.1:p.Ser774Thr
NR_123738.1:n.1455T>A
XM_011519831.1:c.2344T>A	XP_011518133.1:p.Ser782Thr
XM_011519832.1:c.1573T>A	XP_011518134.1:p.Ser525Thr
XM_011519833.1:c.*27T>A	XP_011518135.1:n.*27T>A
XR_930841.1:n.1791T>A
XR_930842.1:n.1732T>A
XM_011519832.3:c.1573T>A	XP_011518134.1:p.Ser525Thr
XM_017017075.1:c.2320T>A	XP_016872564.1:p.Ser774Thr
XR_001747717.2:n.1579T>A
NM_153676.4:c.2320T>A MANE Select	NP_710142.1:p.Ser774Thr
NM_001297764.2:c.1363T>A	NP_001284693.1:p.Ser455Thr
NM_005709.4:c.1420T>A MANE Plus Clinical	NP_005700.2:p.Ser474Thr
NR_123738.2:n.1455T>A