Canonical Allele Identifier: CA2639739474

Gene: USH1G

Linked Data

• gnomAD v4: 17-74916346-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74916346C>A , CM000679.2:g.74916346C>A	GRCh38
NC_000017.10:g.72912438C>A , CM000679.1:g.72912438C>A	GRCh37
NC_000017.9:g.70424033C>A	NCBI36
NG_007882.1:g.11914G>T
NG_007882.2:g.11918G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.*1727G>T MANE Select	ENSP00000480279.1:n.*1727G>T
ENST00000614341.4:c.*1727G>T	ENSP00000480279.1:n.*1727G>T
NM_001282489.2:c.*1727G>T	NP_001269418.1:n.*1727G>T
NM_173477.4:c.*1727G>T	NP_775748.2:n.*1727G>T
XM_011524296.1:c.*1727G>T	XP_011522598.1:n.*1727G>T
XM_011524296.2:c.*1727G>T	XP_011522598.1:n.*1727G>T
NM_173477.5:c.*1727G>T MANE Select	NP_775748.2:n.*1727G>T
NM_001282489.3:c.*1727G>T	NP_001269418.1:n.*1727G>T