Canonical Allele Identifier: CA262040

Gene: USH1G

Linked Data

• ClinVar Variation Id: 48127
• ClinVar RCV Id: RCV000041415 ; RCV001382883 ; RCV001799509
• dbSNP Id: rs397517925
• ExAC: 17:72915558 T / A
• gnomAD v2: 17-72915558-T-A
• gnomAD v3: 17-74919463-T-A
• gnomAD v4: 17-74919463-T-A
• MyVariant Identifiers: chr17:g.72915558T>A (hg19) ; chr17:g.74919463T>A (hg38)
• PubMed: PMID:16283141

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919463T>A , CM000679.2:g.74919463T>A	GRCh38
NC_000017.10:g.72915558T>A , CM000679.1:g.72915558T>A	GRCh37
NC_000017.9:g.70427153T>A	NCBI36
NG_007882.1:g.8794A>T
NG_033062.1:g.189T>A
NG_007882.2:g.8801A>T
NG_033062.2:g.189T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1373A>T MANE Select	ENSP00000480279.1:p.Asp458Val
ENST00000579243.1:c.*972A>T	ENSP00000462568.1:n.*972A>T
ENST00000614341.4:c.1373A>T	ENSP00000480279.1:p.Asp458Val
NM_001282489.2:c.1064A>T	NP_001269418.1:p.Asp355Val
NM_173477.4:c.1373A>T	NP_775748.2:p.Asp458Val
XM_011524296.1:c.1064A>T	XP_011522598.1:p.Asp355Val
XM_011524296.2:c.1064A>T	XP_011522598.1:p.Asp355Val
NM_173477.5:c.1373A>T MANE Select	NP_775748.2:p.Asp458Val
NM_001282489.3:c.1064A>T	NP_001269418.1:p.Asp355Val