Canonical Allele Identifier: CA400961350
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919580A>G , CM000679.2:g.74919580A>G GRCh38
NC_000017.10:g.72915675A>G , CM000679.1:g.72915675A>G GRCh37
NC_000017.9:g.70427270A>G NCBI36
NG_007882.1:g.8677T>C
NG_033062.1:g.306A>G
NG_007882.2:g.8684T>C
NG_033062.2:g.306A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1256T>C MANE Select ENSP00000480279.1:p.Met419Thr
ENST00000579243.1:c.*855T>C ENSP00000462568.1:n.*855T>C
ENST00000614341.4:c.1256T>C ENSP00000480279.1:p.Met419Thr
NM_001282489.2:c.947T>C NP_001269418.1:p.Met316Thr
NM_173477.4:c.1256T>C NP_775748.2:p.Met419Thr
XM_011524296.1:c.947T>C XP_011522598.1:p.Met316Thr
XM_011524296.2:c.947T>C XP_011522598.1:p.Met316Thr
NM_173477.5:c.1256T>C MANE Select NP_775748.2:p.Met419Thr
NM_001282489.3:c.947T>C NP_001269418.1:p.Met316Thr