Canonical Allele Identifier: CA379803562

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523067T>C (hg19) ; chr11:g.17501520T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501520T>C , CM000673.2:g.17501520T>C	GRCh38
NC_000011.9:g.17523067T>C , CM000673.1:g.17523067T>C	GRCh37
NC_000011.8:g.17479643T>C	NCBI36
NG_011883.1:g.47897A>G
NG_011883.2:g.47897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2242A>G MANE Select	ENSP00000005226.7:p.Ile748Val
ENST00000318024.9:c.1342A>G MANE Plus Clinical	ENSP00000317018.4:p.Ile448Val
ENST00000005226.11:c.2242A>G	ENSP00000005226.7:p.Ile748Val
ENST00000318024.8:c.1342A>G	ENSP00000317018.4:p.Ile448Val
ENST00000526313.5:c.*56A>G	ENSP00000432236.1:n.*56A>G
ENST00000527020.5:c.1285A>G	ENSP00000436934.1:p.Ile429Val
ENST00000527720.5:c.1249A>G	ENSP00000432944.1:p.Ile417Val
ENST00000529563.5:n.226A>G
ENST00000534556.1:n.127A>G
NM_001297764.1:c.1285A>G	NP_001284693.1:p.Ile429Val
NM_005709.3:c.1342A>G	NP_005700.2:p.Ile448Val
NM_153676.3:c.2242A>G	NP_710142.1:p.Ile748Val
NR_123738.1:n.1377A>G
XM_011519831.1:c.2266A>G	XP_011518133.1:p.Ile756Val
XM_011519832.1:c.1495A>G	XP_011518134.1:p.Ile499Val
XM_011519833.1:c.1392A>G	XP_011518135.1:p.Arg464=
XR_930841.1:n.1713A>G
XR_930842.1:n.1654A>G
XM_011519832.3:c.1495A>G	XP_011518134.1:p.Ile499Val
XM_017017075.1:c.2242A>G	XP_016872564.1:p.Ile748Val
XR_001747717.2:n.1501A>G
NM_153676.4:c.2242A>G MANE Select	NP_710142.1:p.Ile748Val
NM_001297764.2:c.1285A>G	NP_001284693.1:p.Ile429Val
NM_005709.4:c.1342A>G MANE Plus Clinical	NP_005700.2:p.Ile448Val
NR_123738.2:n.1377A>G