Canonical Allele Identifier: CA2639743490

Gene: USH1G

Linked Data

• gnomAD v4: 17-74917257-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74917257G>A , CM000679.2:g.74917257G>A	GRCh38
NC_000017.10:g.72913351G>A , CM000679.1:g.72913351G>A	GRCh37
NC_000017.9:g.70424946G>A	NCBI36
NG_007882.1:g.11001C>T
NG_007882.2:g.11007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.*816C>T MANE Select	ENSP00000480279.1:n.*816C>T
ENST00000614341.4:c.*816C>T	ENSP00000480279.1:n.*816C>T
NM_001282489.2:c.*816C>T	NP_001269418.1:n.*816C>T
NM_173477.4:c.*816C>T	NP_775748.2:n.*816C>T
XM_011524296.1:c.*816C>T	XP_011522598.1:n.*816C>T
XM_011524296.2:c.*816C>T	XP_011522598.1:n.*816C>T
NM_173477.5:c.*816C>T MANE Select	NP_775748.2:n.*816C>T
NM_001282489.3:c.*816C>T	NP_001269418.1:n.*816C>T