Canonical Allele Identifier: CA2275255191
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919646G= , CM000679.2:g.74919646G= GRCh38
NC_000017.10:g.72915741G= , CM000679.1:g.72915741G= GRCh37
NC_000017.9:g.70427336G= NCBI36
NG_007882.1:g.8611C=
NG_033062.1:g.372G=
NG_007882.2:g.8618C=
NG_033062.2:g.372G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1190C= MANE Select ENSP00000480279.1:p.Ala397=
ENST00000579243.1:c.*789C= ENSP00000462568.1:n.*789C=
ENST00000614341.4:c.1190C= ENSP00000480279.1:p.Ala397=
NM_001282489.2:c.881C= NP_001269418.1:p.Ala294=
NM_173477.4:c.1190C= NP_775748.2:p.Ala397=
XM_011524296.1:c.881C= XP_011522598.1:p.Ala294=
XM_011524296.2:c.881C= XP_011522598.1:p.Ala294=
NM_173477.5:c.1190C= MANE Select NP_775748.2:p.Ala397=
NM_001282489.3:c.881C= NP_001269418.1:p.Ala294=