Canonical Allele Identifier: CA218448710

Gene: USH1C

Linked Data

• dbSNP Id: rs1014526395
• gnomAD v2: 11-17530713-C-T
• gnomAD v3: 11-17509166-C-T
• gnomAD v4: 11-17509166-C-T
• MyVariant Identifiers: chr11:g.17530713C>T (hg19) ; chr11:g.17509166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509166C>T , CM000673.2:g.17509166C>T	GRCh38
NC_000011.9:g.17530713C>T , CM000673.1:g.17530713C>T	GRCh37
NC_000011.8:g.17487289C>T	NCBI36
NG_011883.1:g.40251G>A
NG_011883.2:g.40251G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2013+190G>A MANE Select	ENSP00000005226.7:n.2013+190G>A
ENST00000318024.9:c.1285-7186G>A MANE Plus Clinical	ENSP00000317018.4:n.1285-7186G>A
ENST00000005226.11:c.2013+190G>A	ENSP00000005226.7:n.2013+190G>A
ENST00000318024.8:c.1285-7186G>A	ENSP00000317018.4:n.1285-7186G>A
ENST00000526313.5:c.1211-7186G>A	ENSP00000432236.1:n.1211-7186G>A
ENST00000527020.5:c.1228-7186G>A	ENSP00000436934.1:n.1228-7186G>A
ENST00000527720.5:c.1192-7186G>A	ENSP00000432944.1:n.1192-7186G>A
ENST00000529563.5:n.169-7186G>A
NM_001297764.1:c.1228-7186G>A	NP_001284693.1:n.1228-7186G>A
NM_005709.3:c.1285-7186G>A	NP_005700.2:n.1285-7186G>A
NM_153676.3:c.2013+190G>A	NP_710142.1:n.2013+190G>A
NR_123738.1:n.1320-7186G>A
XM_011519831.1:c.2037+190G>A	XP_011518133.1:n.2037+190G>A
XM_011519832.1:c.1437+2736G>A	XP_011518134.1:n.1437+2736G>A
XM_011519833.1:c.1334+7075G>A	XP_011518135.1:n.1334+7075G>A
XR_930841.1:n.1655+2736G>A
XR_930842.1:n.1596+2736G>A
XM_011519832.3:c.1437+2736G>A	XP_011518134.1:n.1437+2736G>A
XM_017017072.1:c.2101G>A	XP_016872561.1:p.Glu701Lys
XM_017017073.1:c.2044G>A	XP_016872562.1:p.Glu682Lys
XM_017017074.1:c.1618G>A	XP_016872563.1:p.Glu540Lys
XM_017017075.1:c.2013+190G>A	XP_016872564.1:n.2013+190G>A
XR_001747717.2:n.1443+7075G>A
NM_153676.4:c.2013+190G>A MANE Select	NP_710142.1:n.2013+190G>A
NM_001297764.2:c.1228-7186G>A	NP_001284693.1:n.1228-7186G>A
NM_005709.4:c.1285-7186G>A MANE Plus Clinical	NP_005700.2:n.1285-7186G>A
NR_123738.2:n.1320-7186G>A