Canonical Allele Identifier: CA142646
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 48126
dbSNP Id: rs139897506

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919578G>C , CM000679.2:g.74919578G>C GRCh38
NC_000017.10:g.72915673G>C , CM000679.1:g.72915673G>C GRCh37
NC_000017.9:g.70427268G>C NCBI36
NG_007882.1:g.8679C>G
NG_033062.1:g.304G>C
NG_007882.2:g.8686C>G
NG_033062.2:g.304G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1258C>G MANE Select ENSP00000480279.1:p.Leu420Val
ENST00000579243.1:c.*857C>G ENSP00000462568.1:n.*857C>G
ENST00000614341.4:c.1258C>G ENSP00000480279.1:p.Leu420Val
NM_001282489.2:c.949C>G NP_001269418.1:p.Leu317Val
NM_173477.4:c.1258C>G NP_775748.2:p.Leu420Val
XM_011524296.1:c.949C>G XP_011522598.1:p.Leu317Val
XM_011524296.2:c.949C>G XP_011522598.1:p.Leu317Val
NM_173477.5:c.1258C>G MANE Select NP_775748.2:p.Leu420Val
NM_001282489.3:c.949C>G NP_001269418.1:p.Leu317Val