Canonical Allele Identifier: CA2275255275
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919812G= , CM000679.2:g.74919812G= GRCh38
NC_000017.10:g.72915907G= , CM000679.1:g.72915907G= GRCh37
NC_000017.9:g.70427502G= NCBI36
NG_007882.1:g.8445C=
NG_033062.1:g.538G=
NG_007882.2:g.8452C=
NG_033062.2:g.538G=

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.1024C= MANE Select ENSP00000480279.1:p.Pro342=
ENST00000579243.1:c.*623C= ENSP00000462568.1:n.*623C=
ENST00000614341.4:c.1024C= ENSP00000480279.1:p.Pro342=
NM_001282489.2:c.715C= NP_001269418.1:p.Pro239=
NM_173477.4:c.1024C= NP_775748.2:p.Pro342=
XM_011524296.1:c.715C= XP_011522598.1:p.Pro239=
XM_011524296.2:c.715C= XP_011522598.1:p.Pro239=
NM_173477.5:c.1024C= MANE Select NP_775748.2:p.Pro342=
NM_001282489.3:c.715C= NP_001269418.1:p.Pro239=