Canonical Allele Identifier: CA2275255138
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919545C= , CM000679.2:g.74919545C= GRCh38
NC_000017.10:g.72915640C= , CM000679.1:g.72915640C= GRCh37
NC_000017.9:g.70427235C= NCBI36
NG_007882.1:g.8712G=
NG_033062.1:g.271C=
NG_007882.2:g.8719G=
NG_033062.2:g.271C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1291G= MANE Select ENSP00000480279.1:p.Val431=
ENST00000579243.1:c.*890G= ENSP00000462568.1:n.*890G=
ENST00000614341.4:c.1291G= ENSP00000480279.1:p.Val431=
NM_001282489.2:c.982G= NP_001269418.1:p.Val328=
NM_173477.4:c.1291G= NP_775748.2:p.Val431=
XM_011524296.1:c.982G= XP_011522598.1:p.Val328=
XM_011524296.2:c.982G= XP_011522598.1:p.Val328=
NM_173477.5:c.1291G= MANE Select NP_775748.2:p.Val431=
NM_001282489.3:c.982G= NP_001269418.1:p.Val328=