Canonical Allele Identifier: CA8753956

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1160780
• ClinVar RCV Id: RCV001505047 ; RCV002265998
• dbSNP Id: rs137871047
• ExAC: 17:72915948 C / A
• gnomAD v2: 17-72915948-C-A
• gnomAD v3: 17-74919853-C-A
• gnomAD v4: 17-74919853-C-A
• MyVariant Identifiers: chr17:g.72915948C>A (hg19) ; chr17:g.74919853C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919853C>A , CM000679.2:g.74919853C>A	GRCh38
NC_000017.10:g.72915948C>A , CM000679.1:g.72915948C>A	GRCh37
NC_000017.9:g.70427543C>A	NCBI36
NG_007882.1:g.8404G>T
NG_033062.1:g.579C>A
NG_007882.2:g.8411G>T
NG_033062.2:g.579C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.983G>T MANE Select	ENSP00000480279.1:p.Gly328Val
ENST00000579243.1:c.*582G>T	ENSP00000462568.1:n.*582G>T
ENST00000614341.4:c.983G>T	ENSP00000480279.1:p.Gly328Val
NM_001282489.2:c.674G>T	NP_001269418.1:p.Gly225Val
NM_173477.4:c.983G>T	NP_775748.2:p.Gly328Val
XM_011524296.1:c.674G>T	XP_011522598.1:p.Gly225Val
XM_011524296.2:c.674G>T	XP_011522598.1:p.Gly225Val
NM_173477.5:c.983G>T MANE Select	NP_775748.2:p.Gly328Val
NM_001282489.3:c.674G>T	NP_001269418.1:p.Gly225Val