Canonical Allele Identifier: CA400961423
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 1464310
ClinVar RCV Id: RCV001963432
dbSNP Id: rs2038908629

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919616A>C , CM000679.2:g.74919616A>C GRCh38
NC_000017.10:g.72915711A>C , CM000679.1:g.72915711A>C GRCh37
NC_000017.9:g.70427306A>C NCBI36
NG_007882.1:g.8641T>G
NG_033062.1:g.342A>C
NG_007882.2:g.8648T>G
NG_033062.2:g.342A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1220T>G MANE Select ENSP00000480279.1:p.Leu407Arg
ENST00000579243.1:c.*819T>G ENSP00000462568.1:n.*819T>G
ENST00000614341.4:c.1220T>G ENSP00000480279.1:p.Leu407Arg
NM_001282489.2:c.911T>G NP_001269418.1:p.Leu304Arg
NM_173477.4:c.1220T>G NP_775748.2:p.Leu407Arg
XM_011524296.1:c.911T>G XP_011522598.1:p.Leu304Arg
XM_011524296.2:c.911T>G XP_011522598.1:p.Leu304Arg
NM_173477.5:c.1220T>G MANE Select NP_775748.2:p.Leu407Arg
NM_001282489.3:c.911T>G NP_001269418.1:p.Leu304Arg