Canonical Allele Identifier: CA379800364

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519717G>T (hg19) ; chr11:g.17498170G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498170G>T , CM000673.2:g.17498170G>T	GRCh38
NC_000011.9:g.17519717G>T , CM000673.1:g.17519717G>T	GRCh37
NC_000011.8:g.17476293G>T	NCBI36
NG_011883.1:g.51247C>A
NG_011883.2:g.51247C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2482C>A MANE Select	ENSP00000005226.7:p.Gln828Lys
ENST00000318024.9:c.1582C>A MANE Plus Clinical	ENSP00000317018.4:p.Gln528Lys
ENST00000005226.11:c.2482C>A	ENSP00000005226.7:p.Gln828Lys
ENST00000318024.8:c.1582C>A	ENSP00000317018.4:p.Gln528Lys
ENST00000526313.5:c.*296C>A	ENSP00000432236.1:n.*296C>A
ENST00000527020.5:c.1525C>A	ENSP00000436934.1:p.Gln509Lys
ENST00000527720.5:c.1489C>A	ENSP00000432944.1:p.Gln497Lys
ENST00000529563.5:n.466C>A
NM_001297764.1:c.1525C>A	NP_001284693.1:p.Gln509Lys
NM_005709.3:c.1582C>A	NP_005700.2:p.Gln528Lys
NM_153676.3:c.2482C>A	NP_710142.1:p.Gln828Lys
NR_123738.1:n.1617C>A
XM_011519831.1:c.2506C>A	XP_011518133.1:p.Gln836Lys
XM_011519832.1:c.1735C>A	XP_011518134.1:p.Gln579Lys
XM_011519832.3:c.1735C>A	XP_011518134.1:p.Gln579Lys
XM_017017075.1:c.2482C>A	XP_016872564.1:p.Gln828Lys
XR_001747717.2:n.1741C>A
NM_153676.4:c.2482C>A MANE Select	NP_710142.1:p.Gln828Lys
NM_001297764.2:c.1525C>A	NP_001284693.1:p.Gln509Lys
NM_005709.4:c.1582C>A MANE Plus Clinical	NP_005700.2:p.Gln528Lys
NR_123738.2:n.1617C>A