Canonical Allele Identifier: CA400964394
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920240A>C , CM000679.2:g.74920240A>C GRCh38
NC_000017.10:g.72916335A>C , CM000679.1:g.72916335A>C GRCh37
NC_000017.9:g.70427930A>C NCBI36
NG_007882.1:g.8017T>G
NG_033062.1:g.966A>C
NG_007882.2:g.8024T>G
NG_033062.2:g.966A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.596T>G MANE Select ENSP00000480279.1:p.Leu199Arg
ENST00000579243.1:c.*195T>G ENSP00000462568.1:n.*195T>G
ENST00000614341.4:c.596T>G ENSP00000480279.1:p.Leu199Arg
NM_001282489.2:c.287T>G NP_001269418.1:p.Leu96Arg
NM_173477.4:c.596T>G NP_775748.2:p.Leu199Arg
XM_011524296.1:c.287T>G XP_011522598.1:p.Leu96Arg
XM_011524296.2:c.287T>G XP_011522598.1:p.Leu96Arg
NM_173477.5:c.596T>G MANE Select NP_775748.2:p.Leu199Arg
NM_001282489.3:c.287T>G NP_001269418.1:p.Leu96Arg