Canonical Allele Identifier: CA10650078
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 325043
ClinVar RCV Id: RCV000372403
dbSNP Id: rs886053386
gnomAD v2: 17-72913358-G-T
gnomAD v3: 17-74917264-G-T
gnomAD v4: 17-74917264-G-T
MyVariant Identifiers: chr17:g.72913358G>T (hg19) chr17:g.74917264G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917264G>T , CM000679.2:g.74917264G>T GRCh38
NC_000017.10:g.72913358G>T , CM000679.1:g.72913358G>T GRCh37
NC_000017.9:g.70424953G>T NCBI36
NG_007882.1:g.10994C>A
NG_007882.2:g.11000C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*809C>A MANE Select ENSP00000480279.1:n.*809C>A
ENST00000614341.4:c.*809C>A ENSP00000480279.1:n.*809C>A
NM_001282489.2:c.*809C>A NP_001269418.1:n.*809C>A
NM_173477.4:c.*809C>A NP_775748.2:n.*809C>A
XM_011524296.1:c.*809C>A XP_011522598.1:n.*809C>A
XM_011524296.2:c.*809C>A XP_011522598.1:n.*809C>A
NM_173477.5:c.*809C>A MANE Select NP_775748.2:n.*809C>A
NM_001282489.3:c.*809C>A NP_001269418.1:n.*809C>A
Search 100 bp 5'
Search 100 bp 3'