Canonical Allele Identifier: CA473516354

Gene: USH1C

Linked Data

• gnomAD v4: 11-17509362-G-T
• MyVariant Identifiers: chr11:g.17530909G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509362G>T , CM000673.2:g.17509362G>T	GRCh38
NC_000011.9:g.17530909G>T , CM000673.1:g.17530909G>T	GRCh37
NC_000011.8:g.17487485G>T	NCBI36
NG_011883.1:g.40055C>A
NG_011883.2:g.40055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2007C>A MANE Select	ENSP00000005226.7:p.Thr669=
ENST00000318024.9:c.1285-7382C>A MANE Plus Clinical	ENSP00000317018.4:n.1285-7382C>A
ENST00000005226.11:c.2007C>A	ENSP00000005226.7:p.Thr669=
ENST00000318024.8:c.1285-7382C>A	ENSP00000317018.4:n.1285-7382C>A
ENST00000526313.5:c.1211-7382C>A	ENSP00000432236.1:n.1211-7382C>A
ENST00000527020.5:c.1228-7382C>A	ENSP00000436934.1:n.1228-7382C>A
ENST00000527720.5:c.1192-7382C>A	ENSP00000432944.1:n.1192-7382C>A
ENST00000529563.5:n.168+7093C>A
NM_001297764.1:c.1228-7382C>A	NP_001284693.1:n.1228-7382C>A
NM_005709.3:c.1285-7382C>A	NP_005700.2:n.1285-7382C>A
NM_153676.3:c.2007C>A	NP_710142.1:p.Thr669=
NR_123738.1:n.1320-7382C>A
XM_011519831.1:c.2031C>A	XP_011518133.1:p.Thr677=
XM_011519832.1:c.1437+2540C>A	XP_011518134.1:n.1437+2540C>A
XM_011519833.1:c.1334+6879C>A	XP_011518135.1:n.1334+6879C>A
XR_930841.1:n.1655+2540C>A
XR_930842.1:n.1596+2540C>A
XM_011519832.3:c.1437+2540C>A	XP_011518134.1:n.1437+2540C>A
XM_017017072.1:c.2031C>A	XP_016872561.1:p.Thr677=
XM_017017073.1:c.1974C>A	XP_016872562.1:p.Thr658=
XM_017017074.1:c.1555-133C>A	XP_016872563.1:n.1555-133C>A
XM_017017075.1:c.2007C>A	XP_016872564.1:p.Thr669=
XR_001747717.2:n.1443+6879C>A
NM_153676.4:c.2007C>A MANE Select	NP_710142.1:p.Thr669=
NM_001297764.2:c.1228-7382C>A	NP_001284693.1:n.1228-7382C>A
NM_005709.4:c.1285-7382C>A MANE Plus Clinical	NP_005700.2:n.1285-7382C>A
NR_123738.2:n.1320-7382C>A