Canonical Allele Identifier: CA2639739231
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916275C>A , CM000679.2:g.74916275C>A GRCh38
NC_000017.10:g.72912367C>A , CM000679.1:g.72912367C>A GRCh37
NC_000017.9:g.70423962C>A NCBI36
NG_007882.1:g.11985G>T
NG_007882.2:g.11989G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.*1798G>T MANE Select ENSP00000480279.1:n.*1798G>T
ENST00000614341.4:c.*1798G>T ENSP00000480279.1:n.*1798G>T
NM_001282489.2:c.*1798G>T NP_001269418.1:n.*1798G>T
NM_173477.4:c.*1798G>T NP_775748.2:n.*1798G>T
XM_011524296.1:c.*1798G>T XP_011522598.1:n.*1798G>T
XM_011524296.2:c.*1798G>T XP_011522598.1:n.*1798G>T
NM_173477.5:c.*1798G>T MANE Select NP_775748.2:n.*1798G>T
NM_001282489.3:c.*1798G>T NP_001269418.1:n.*1798G>T