Canonical Allele Identifier: CA182580

Gene: USH1G

Linked Data

• ClinVar Variation Id: 178570
• ClinVar RCV Id: RCV000155318 ; RCV000725682 ; RCV000999863 ; RCV004544436
• dbSNP Id: rs142486910
• ExAC: 17:72916094 G / C
• gnomAD v2: 17-72916094-G-C
• gnomAD v3: 17-74919999-G-C
• gnomAD v4: 17-74919999-G-C
• MyVariant Identifiers: chr17:g.72916094G>C (hg19) ; chr17:g.74919999G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919999G>C , CM000679.2:g.74919999G>C	GRCh38
NC_000017.10:g.72916094G>C , CM000679.1:g.72916094G>C	GRCh37
NC_000017.9:g.70427689G>C	NCBI36
NG_007882.1:g.8258C>G
NG_033062.1:g.725G>C
NG_007882.2:g.8265C>G
NG_033062.2:g.725G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.837C>G MANE Select	ENSP00000480279.1:p.Asp279Glu
ENST00000579243.1:c.*436C>G	ENSP00000462568.1:n.*436C>G
ENST00000614341.4:c.837C>G	ENSP00000480279.1:p.Asp279Glu
NM_001282489.2:c.528C>G	NP_001269418.1:p.Asp176Glu
NM_173477.4:c.837C>G	NP_775748.2:p.Asp279Glu
XM_011524296.1:c.528C>G	XP_011522598.1:p.Asp176Glu
XM_011524296.2:c.528C>G	XP_011522598.1:p.Asp176Glu
NM_173477.5:c.837C>G MANE Select	NP_775748.2:p.Asp279Glu
NM_001282489.3:c.528C>G	NP_001269418.1:p.Asp176Glu