Canonical Allele Identifier: CA2275255248
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919760C= , CM000679.2:g.74919760C= GRCh38
NC_000017.10:g.72915855C= , CM000679.1:g.72915855C= GRCh37
NC_000017.9:g.70427450C= NCBI36
NG_007882.1:g.8497G=
NG_033062.1:g.486C=
NG_007882.2:g.8504G=
NG_033062.2:g.486C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1076G= MANE Select ENSP00000480279.1:p.Ser359=
ENST00000579243.1:c.*675G= ENSP00000462568.1:n.*675G=
ENST00000614341.4:c.1076G= ENSP00000480279.1:p.Ser359=
NM_001282489.2:c.767G= NP_001269418.1:p.Ser256=
NM_173477.4:c.1076G= NP_775748.2:p.Ser359=
XM_011524296.1:c.767G= XP_011522598.1:p.Ser256=
XM_011524296.2:c.767G= XP_011522598.1:p.Ser256=
NM_173477.5:c.1076G= MANE Select NP_775748.2:p.Ser359=
NM_001282489.3:c.767G= NP_001269418.1:p.Ser256=