Canonical Allele Identifier: CA2639743817

Gene: USH1G

Linked Data

• gnomAD v4: 17-74917425-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74917425G>A , CM000679.2:g.74917425G>A	GRCh38
NC_000017.10:g.72913519G>A , CM000679.1:g.72913519G>A	GRCh37
NC_000017.9:g.70425114G>A	NCBI36
NG_007882.1:g.10833C>T
NG_007882.2:g.10839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.*648C>T MANE Select	ENSP00000480279.1:n.*648C>T
ENST00000614341.4:c.*648C>T	ENSP00000480279.1:n.*648C>T
NM_001282489.2:c.*648C>T	NP_001269418.1:n.*648C>T
NM_173477.4:c.*648C>T	NP_775748.2:n.*648C>T
XM_011524296.1:c.*648C>T	XP_011522598.1:n.*648C>T
XM_011524296.2:c.*648C>T	XP_011522598.1:n.*648C>T
NM_173477.5:c.*648C>T MANE Select	NP_775748.2:n.*648C>T
NM_001282489.3:c.*648C>T	NP_001269418.1:n.*648C>T