Canonical Allele Identifier: CA2275255181
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919628T= , CM000679.2:g.74919628T= GRCh38
NC_000017.10:g.72915723T= , CM000679.1:g.72915723T= GRCh37
NC_000017.9:g.70427318T= NCBI36
NG_007882.1:g.8629A=
NG_033062.1:g.354T=
NG_007882.2:g.8636A=
NG_033062.2:g.354T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1208A= MANE Select ENSP00000480279.1:p.Asp403=
ENST00000579243.1:c.*807A= ENSP00000462568.1:n.*807A=
ENST00000614341.4:c.1208A= ENSP00000480279.1:p.Asp403=
NM_001282489.2:c.899A= NP_001269418.1:p.Asp300=
NM_173477.4:c.1208A= NP_775748.2:p.Asp403=
XM_011524296.1:c.899A= XP_011522598.1:p.Asp300=
XM_011524296.2:c.899A= XP_011522598.1:p.Asp300=
NM_173477.5:c.1208A= MANE Select NP_775748.2:p.Asp403=
NM_001282489.3:c.899A= NP_001269418.1:p.Asp300=