Canonical Allele Identifier: CA218487081

Gene: USH1C

Linked Data

• dbSNP Id: rs974123483
• gnomAD v2: 11-17523066-A-T
• gnomAD v3: 11-17501519-A-T
• gnomAD v4: 11-17501519-A-T
• MyVariant Identifiers: chr11:g.17523066A>T (hg19) ; chr11:g.17501519A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501519A>T , CM000673.2:g.17501519A>T	GRCh38
NC_000011.9:g.17523066A>T , CM000673.1:g.17523066A>T	GRCh37
NC_000011.8:g.17479642A>T	NCBI36
NG_011883.1:g.47898T>A
NG_011883.2:g.47898T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2243T>A MANE Select	ENSP00000005226.7:p.Ile748Asn
ENST00000318024.9:c.1343T>A MANE Plus Clinical	ENSP00000317018.4:p.Ile448Asn
ENST00000005226.11:c.2243T>A	ENSP00000005226.7:p.Ile748Asn
ENST00000318024.8:c.1343T>A	ENSP00000317018.4:p.Ile448Asn
ENST00000526313.5:c.*57T>A	ENSP00000432236.1:n.*57T>A
ENST00000527020.5:c.1286T>A	ENSP00000436934.1:p.Ile429Asn
ENST00000527720.5:c.1250T>A	ENSP00000432944.1:p.Ile417Asn
ENST00000529563.5:n.227T>A
ENST00000534556.1:n.128T>A
NM_001297764.1:c.1286T>A	NP_001284693.1:p.Ile429Asn
NM_005709.3:c.1343T>A	NP_005700.2:p.Ile448Asn
NM_153676.3:c.2243T>A	NP_710142.1:p.Ile748Asn
NR_123738.1:n.1378T>A
XM_011519831.1:c.2267T>A	XP_011518133.1:p.Ile756Asn
XM_011519832.1:c.1496T>A	XP_011518134.1:p.Ile499Asn
XM_011519833.1:c.1393T>A	XP_011518135.1:p.Ser465Thr
XR_930841.1:n.1714T>A
XR_930842.1:n.1655T>A
XM_011519832.3:c.1496T>A	XP_011518134.1:p.Ile499Asn
XM_017017075.1:c.2243T>A	XP_016872564.1:p.Ile748Asn
XR_001747717.2:n.1502T>A
NM_153676.4:c.2243T>A MANE Select	NP_710142.1:p.Ile748Asn
NM_001297764.2:c.1286T>A	NP_001284693.1:p.Ile429Asn
NM_005709.4:c.1343T>A MANE Plus Clinical	NP_005700.2:p.Ile448Asn
NR_123738.2:n.1378T>A