Canonical Allele Identifier: CA2639743561
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917322T>A , CM000679.2:g.74917322T>A GRCh38
NC_000017.10:g.72913416T>A , CM000679.1:g.72913416T>A GRCh37
NC_000017.9:g.70425011T>A NCBI36
NG_007882.1:g.10936A>T
NG_007882.2:g.10942A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*751A>T MANE Select ENSP00000480279.1:n.*751A>T
ENST00000614341.4:c.*751A>T ENSP00000480279.1:n.*751A>T
NM_001282489.2:c.*751A>T NP_001269418.1:n.*751A>T
NM_173477.4:c.*751A>T NP_775748.2:n.*751A>T
XM_011524296.1:c.*751A>T XP_011522598.1:n.*751A>T
XM_011524296.2:c.*751A>T XP_011522598.1:n.*751A>T
NM_173477.5:c.*751A>T MANE Select NP_775748.2:n.*751A>T
NM_001282489.3:c.*751A>T NP_001269418.1:n.*751A>T