Canonical Allele Identifier: CA379803541

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523063A>C (hg19) ; chr11:g.17501516A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501516A>C , CM000673.2:g.17501516A>C	GRCh38
NC_000011.9:g.17523063A>C , CM000673.1:g.17523063A>C	GRCh37
NC_000011.8:g.17479639A>C	NCBI36
NG_011883.1:g.47901T>G
NG_011883.2:g.47901T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2246T>G MANE Select	ENSP00000005226.7:p.Met749Arg
ENST00000318024.9:c.1346T>G MANE Plus Clinical	ENSP00000317018.4:p.Met449Arg
ENST00000005226.11:c.2246T>G	ENSP00000005226.7:p.Met749Arg
ENST00000318024.8:c.1346T>G	ENSP00000317018.4:p.Met449Arg
ENST00000526313.5:c.*60T>G	ENSP00000432236.1:n.*60T>G
ENST00000527020.5:c.1289T>G	ENSP00000436934.1:p.Met430Arg
ENST00000527720.5:c.1253T>G	ENSP00000432944.1:p.Met418Arg
ENST00000529563.5:n.230T>G
ENST00000534556.1:n.131T>G
NM_001297764.1:c.1289T>G	NP_001284693.1:p.Met430Arg
NM_005709.3:c.1346T>G	NP_005700.2:p.Met449Arg
NM_153676.3:c.2246T>G	NP_710142.1:p.Met749Arg
NR_123738.1:n.1381T>G
XM_011519831.1:c.2270T>G	XP_011518133.1:p.Met757Arg
XM_011519832.1:c.1499T>G	XP_011518134.1:p.Met500Arg
XM_011519833.1:c.1396T>G	XP_011518135.1:p.Trp466Gly
XR_930841.1:n.1717T>G
XR_930842.1:n.1658T>G
XM_011519832.3:c.1499T>G	XP_011518134.1:p.Met500Arg
XM_017017075.1:c.2246T>G	XP_016872564.1:p.Met749Arg
XR_001747717.2:n.1505T>G
NM_153676.4:c.2246T>G MANE Select	NP_710142.1:p.Met749Arg
NM_001297764.2:c.1289T>G	NP_001284693.1:p.Met430Arg
NM_005709.4:c.1346T>G MANE Plus Clinical	NP_005700.2:p.Met449Arg
NR_123738.2:n.1381T>G