Canonical Allele Identifier: CA400964323
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920222G>C , CM000679.2:g.74920222G>C GRCh38
NC_000017.10:g.72916317G>C , CM000679.1:g.72916317G>C GRCh37
NC_000017.9:g.70427912G>C NCBI36
NG_007882.1:g.8035C>G
NG_033062.1:g.948G>C
NG_007882.2:g.8042C>G
NG_033062.2:g.948G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.614C>G MANE Select ENSP00000480279.1:p.Thr205Arg
ENST00000579243.1:c.*213C>G ENSP00000462568.1:n.*213C>G
ENST00000614341.4:c.614C>G ENSP00000480279.1:p.Thr205Arg
NM_001282489.2:c.305C>G NP_001269418.1:p.Thr102Arg
NM_173477.4:c.614C>G NP_775748.2:p.Thr205Arg
XM_011524296.1:c.305C>G XP_011522598.1:p.Thr102Arg
XM_011524296.2:c.305C>G XP_011522598.1:p.Thr102Arg
NM_173477.5:c.614C>G MANE Select NP_775748.2:p.Thr205Arg
NM_001282489.3:c.305C>G NP_001269418.1:p.Thr102Arg