Canonical Allele Identifier: CA10577042

Gene: USH1G

Linked Data

• ClinVar Variation Id: 229612
• ClinVar RCV Id: RCV000219766
• dbSNP Id: rs876658113
• gnomAD v2: 17-72916006-G-A
• gnomAD v4: 17-74919911-G-A
• COSMIC: COSM4739544
• MyVariant Identifiers: chr17:g.72916006G>A (hg19) ; chr17:g.74919911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919911G>A , CM000679.2:g.74919911G>A	GRCh38
NC_000017.10:g.72916006G>A , CM000679.1:g.72916006G>A	GRCh37
NC_000017.9:g.70427601G>A	NCBI36
NG_007882.1:g.8346C>T
NG_033062.1:g.637G>A
NG_007882.2:g.8353C>T
NG_033062.2:g.637G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.925C>T MANE Select	ENSP00000480279.1:p.Arg309Cys
ENST00000579243.1:c.*524C>T	ENSP00000462568.1:n.*524C>T
ENST00000614341.4:c.925C>T	ENSP00000480279.1:p.Arg309Cys
NM_001282489.2:c.616C>T	NP_001269418.1:p.Arg206Cys
NM_173477.4:c.925C>T	NP_775748.2:p.Arg309Cys
XM_011524296.1:c.616C>T	XP_011522598.1:p.Arg206Cys
XM_011524296.2:c.616C>T	XP_011522598.1:p.Arg206Cys
NM_173477.5:c.925C>T MANE Select	NP_775748.2:p.Arg309Cys
NM_001282489.3:c.616C>T	NP_001269418.1:p.Arg206Cys