Canonical Allele Identifier: CA379803517

Gene: USH1C

Linked Data

• dbSNP Id: rs1849445634
• gnomAD v4: 11-17501514-C-T
• MyVariant Identifiers: chr11:g.17523061C>T (hg19) ; chr11:g.17501514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501514C>T , CM000673.2:g.17501514C>T	GRCh38
NC_000011.9:g.17523061C>T , CM000673.1:g.17523061C>T	GRCh37
NC_000011.8:g.17479637C>T	NCBI36
NG_011883.1:g.47903G>A
NG_011883.2:g.47903G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2248G>A MANE Select	ENSP00000005226.7:p.Gly750Arg
ENST00000318024.9:c.1348G>A MANE Plus Clinical	ENSP00000317018.4:p.Gly450Arg
ENST00000005226.11:c.2248G>A	ENSP00000005226.7:p.Gly750Arg
ENST00000318024.8:c.1348G>A	ENSP00000317018.4:p.Gly450Arg
ENST00000526313.5:c.*62G>A	ENSP00000432236.1:n.*62G>A
ENST00000527020.5:c.1291G>A	ENSP00000436934.1:p.Gly431Arg
ENST00000527720.5:c.1255G>A	ENSP00000432944.1:p.Gly419Arg
ENST00000529563.5:n.232G>A
ENST00000534556.1:n.133G>A
NM_001297764.1:c.1291G>A	NP_001284693.1:p.Gly431Arg
NM_005709.3:c.1348G>A	NP_005700.2:p.Gly450Arg
NM_153676.3:c.2248G>A	NP_710142.1:p.Gly750Arg
NR_123738.1:n.1383G>A
XM_011519831.1:c.2272G>A	XP_011518133.1:p.Gly758Arg
XM_011519832.1:c.1501G>A	XP_011518134.1:p.Gly501Arg
XM_011519833.1:c.1398G>A	XP_011518135.1:p.Trp466Ter
XR_930841.1:n.1719G>A
XR_930842.1:n.1660G>A
XM_011519832.3:c.1501G>A	XP_011518134.1:p.Gly501Arg
XM_017017075.1:c.2248G>A	XP_016872564.1:p.Gly750Arg
XR_001747717.2:n.1507G>A
NM_153676.4:c.2248G>A MANE Select	NP_710142.1:p.Gly750Arg
NM_001297764.2:c.1291G>A	NP_001284693.1:p.Gly431Arg
NM_005709.4:c.1348G>A MANE Plus Clinical	NP_005700.2:p.Gly450Arg
NR_123738.2:n.1383G>A