Canonical Allele Identifier: CA400962824

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1009539
• ClinVar RCV Id: RCV001307045
• dbSNP Id: rs2038916572
• MyVariant Identifiers: chr17:g.72916058C>G (hg19) ; chr17:g.74919963C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919963C>G , CM000679.2:g.74919963C>G	GRCh38
NC_000017.10:g.72916058C>G , CM000679.1:g.72916058C>G	GRCh37
NC_000017.9:g.70427653C>G	NCBI36
NG_007882.1:g.8294G>C
NG_033062.1:g.689C>G
NG_007882.2:g.8301G>C
NG_033062.2:g.689C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.873G>C MANE Select	ENSP00000480279.1:p.Glu291Asp
ENST00000579243.1:c.*472G>C	ENSP00000462568.1:n.*472G>C
ENST00000614341.4:c.873G>C	ENSP00000480279.1:p.Glu291Asp
NM_001282489.2:c.564G>C	NP_001269418.1:p.Glu188Asp
NM_173477.4:c.873G>C	NP_775748.2:p.Glu291Asp
XM_011524296.1:c.564G>C	XP_011522598.1:p.Glu188Asp
XM_011524296.2:c.564G>C	XP_011522598.1:p.Glu188Asp
NM_173477.5:c.873G>C MANE Select	NP_775748.2:p.Glu291Asp
NM_001282489.3:c.564G>C	NP_001269418.1:p.Glu188Asp