Canonical Allele Identifier: CA473305408

Gene: USH1C

Linked Data

• dbSNP Id: rs1353888178
• gnomAD v2: 11-17523065-G-A
• MyVariant Identifiers: chr11:g.17523065G>A (hg19) ; chr11:g.17501518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501518G>A , CM000673.2:g.17501518G>A	GRCh38
NC_000011.9:g.17523065G>A , CM000673.1:g.17523065G>A	GRCh37
NC_000011.8:g.17479641G>A	NCBI36
NG_011883.1:g.47899C>T
NG_011883.2:g.47899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2244C>T MANE Select	ENSP00000005226.7:p.Ile748=
ENST00000318024.9:c.1344C>T MANE Plus Clinical	ENSP00000317018.4:p.Ile448=
ENST00000005226.11:c.2244C>T	ENSP00000005226.7:p.Ile748=
ENST00000318024.8:c.1344C>T	ENSP00000317018.4:p.Ile448=
ENST00000526313.5:c.*58C>T	ENSP00000432236.1:n.*58C>T
ENST00000527020.5:c.1287C>T	ENSP00000436934.1:p.Ile429=
ENST00000527720.5:c.1251C>T	ENSP00000432944.1:p.Ile417=
ENST00000529563.5:n.228C>T
ENST00000534556.1:n.129C>T
NM_001297764.1:c.1287C>T	NP_001284693.1:p.Ile429=
NM_005709.3:c.1344C>T	NP_005700.2:p.Ile448=
NM_153676.3:c.2244C>T	NP_710142.1:p.Ile748=
NR_123738.1:n.1379C>T
XM_011519831.1:c.2268C>T	XP_011518133.1:p.Ile756=
XM_011519832.1:c.1497C>T	XP_011518134.1:p.Ile499=
XM_011519833.1:c.1394C>T	XP_011518135.1:p.Ser465Leu
XR_930841.1:n.1715C>T
XR_930842.1:n.1656C>T
XM_011519832.3:c.1497C>T	XP_011518134.1:p.Ile499=
XM_017017075.1:c.2244C>T	XP_016872564.1:p.Ile748=
XR_001747717.2:n.1503C>T
NM_153676.4:c.2244C>T MANE Select	NP_710142.1:p.Ile748=
NM_001297764.2:c.1287C>T	NP_001284693.1:p.Ile429=
NM_005709.4:c.1344C>T MANE Plus Clinical	NP_005700.2:p.Ile448=
NR_123738.2:n.1379C>T