Canonical Allele Identifier: CA8754045

Gene: USH1G

Linked Data

• ClinVar Variation Id: 325054
• ClinVar RCV Id: RCV000399627 ; RCV001473710 ; RCV002523010
• dbSNP Id: rs201123735
• ExAC: 17:72916368 C / A
• gnomAD v2: 17-72916368-C-A
• gnomAD v3: 17-74920273-C-A
• gnomAD v4: 17-74920273-C-A
• MyVariant Identifiers: chr17:g.72916368C>A (hg19) ; chr17:g.74920273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920273C>A , CM000679.2:g.74920273C>A	GRCh38
NC_000017.10:g.72916368C>A , CM000679.1:g.72916368C>A	GRCh37
NC_000017.9:g.70427963C>A	NCBI36
NG_007882.1:g.7984G>T
NG_033062.1:g.999C>A
NG_007882.2:g.7991G>T
NG_033062.2:g.999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.563G>T MANE Select	ENSP00000480279.1:p.Arg188Leu
ENST00000579243.1:c.*162G>T	ENSP00000462568.1:n.*162G>T
ENST00000614341.4:c.563G>T	ENSP00000480279.1:p.Arg188Leu
NM_001282489.2:c.254G>T	NP_001269418.1:p.Arg85Leu
NM_173477.4:c.563G>T	NP_775748.2:p.Arg188Leu
XM_011524296.1:c.254G>T	XP_011522598.1:p.Arg85Leu
XM_011524296.2:c.254G>T	XP_011522598.1:p.Arg85Leu
NM_173477.5:c.563G>T MANE Select	NP_775748.2:p.Arg188Leu
NM_001282489.3:c.254G>T	NP_001269418.1:p.Arg85Leu