Canonical Allele Identifier: CA379803574

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523070G>T (hg19) ; chr11:g.17501523G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501523G>T , CM000673.2:g.17501523G>T	GRCh38
NC_000011.9:g.17523070G>T , CM000673.1:g.17523070G>T	GRCh37
NC_000011.8:g.17479646G>T	NCBI36
NG_011883.1:g.47894C>A
NG_011883.2:g.47894C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2239C>A MANE Select	ENSP00000005226.7:p.Gln747Lys
ENST00000318024.9:c.1339C>A MANE Plus Clinical	ENSP00000317018.4:p.Gln447Lys
ENST00000005226.11:c.2239C>A	ENSP00000005226.7:p.Gln747Lys
ENST00000318024.8:c.1339C>A	ENSP00000317018.4:p.Gln447Lys
ENST00000526313.5:c.*53C>A	ENSP00000432236.1:n.*53C>A
ENST00000527020.5:c.1282C>A	ENSP00000436934.1:p.Gln428Lys
ENST00000527720.5:c.1246C>A	ENSP00000432944.1:p.Gln416Lys
ENST00000529563.5:n.223C>A
ENST00000534556.1:n.124C>A
NM_001297764.1:c.1282C>A	NP_001284693.1:p.Gln428Lys
NM_005709.3:c.1339C>A	NP_005700.2:p.Gln447Lys
NM_153676.3:c.2239C>A	NP_710142.1:p.Gln747Lys
NR_123738.1:n.1374C>A
XM_011519831.1:c.2263C>A	XP_011518133.1:p.Gln755Lys
XM_011519832.1:c.1492C>A	XP_011518134.1:p.Gln498Lys
XM_011519833.1:c.1389C>A	XP_011518135.1:p.Ser463Arg
XR_930841.1:n.1710C>A
XR_930842.1:n.1651C>A
XM_011519832.3:c.1492C>A	XP_011518134.1:p.Gln498Lys
XM_017017075.1:c.2239C>A	XP_016872564.1:p.Gln747Lys
XR_001747717.2:n.1498C>A
NM_153676.4:c.2239C>A MANE Select	NP_710142.1:p.Gln747Lys
NM_001297764.2:c.1282C>A	NP_001284693.1:p.Gln428Lys
NM_005709.4:c.1339C>A MANE Plus Clinical	NP_005700.2:p.Gln447Lys
NR_123738.2:n.1374C>A