Canonical Allele Identifier: CA8754018

Gene: USH1G

Linked Data

• ClinVar Variation Id: 834107
• ClinVar RCV Id: RCV001034732 ; RCV003243398
• dbSNP Id: rs775371036
• ExAC: 17:72916211 G / T
• gnomAD v2: 17-72916211-G-T
• gnomAD v3: 17-74920116-G-T
• gnomAD v4: 17-74920116-G-T
• MyVariant Identifiers: chr17:g.72916211G>T (hg19) ; chr17:g.74920116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920116G>T , CM000679.2:g.74920116G>T	GRCh38
NC_000017.10:g.72916211G>T , CM000679.1:g.72916211G>T	GRCh37
NC_000017.9:g.70427806G>T	NCBI36
NG_007882.1:g.8141C>A
NG_033062.1:g.842G>T
NG_007882.2:g.8148C>A
NG_033062.2:g.842G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.720C>A MANE Select	ENSP00000480279.1:p.Ser240Arg
ENST00000579243.1:c.*319C>A	ENSP00000462568.1:n.*319C>A
ENST00000614341.4:c.720C>A	ENSP00000480279.1:p.Ser240Arg
NM_001282489.2:c.411C>A	NP_001269418.1:p.Ser137Arg
NM_173477.4:c.720C>A	NP_775748.2:p.Ser240Arg
XM_011524296.1:c.411C>A	XP_011522598.1:p.Ser137Arg
XM_011524296.2:c.411C>A	XP_011522598.1:p.Ser137Arg
NM_173477.5:c.720C>A MANE Select	NP_775748.2:p.Ser240Arg
NM_001282489.3:c.411C>A	NP_001269418.1:p.Ser137Arg