Canonical Allele Identifier: CA8754037

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1470629
• ClinVar RCV Id: RCV001964273 ; RCV002571290
• dbSNP Id: rs750109903
• ExAC: 17:72916332 G / A
• gnomAD v2: 17-72916332-G-A
• gnomAD v4: 17-74920237-G-A
• MyVariant Identifiers: chr17:g.72916332G>A (hg19) ; chr17:g.74920237G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920237G>A , CM000679.2:g.74920237G>A	GRCh38
NC_000017.10:g.72916332G>A , CM000679.1:g.72916332G>A	GRCh37
NC_000017.9:g.70427927G>A	NCBI36
NG_007882.1:g.8020C>T
NG_033062.1:g.963G>A
NG_007882.2:g.8027C>T
NG_033062.2:g.963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.599C>T MANE Select	ENSP00000480279.1:p.Pro200Leu
ENST00000579243.1:c.*198C>T	ENSP00000462568.1:n.*198C>T
ENST00000614341.4:c.599C>T	ENSP00000480279.1:p.Pro200Leu
NM_001282489.2:c.290C>T	NP_001269418.1:p.Pro97Leu
NM_173477.4:c.599C>T	NP_775748.2:p.Pro200Leu
XM_011524296.1:c.290C>T	XP_011522598.1:p.Pro97Leu
XM_011524296.2:c.290C>T	XP_011522598.1:p.Pro97Leu
NM_173477.5:c.599C>T MANE Select	NP_775748.2:p.Pro200Leu
NM_001282489.3:c.290C>T	NP_001269418.1:p.Pro97Leu