Canonical Allele Identifier: CA293981809
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 891587
ClinVar RCV Id: RCV001126968
dbSNP Id: rs977400332
gnomAD v3: 17-74917242-G-A
gnomAD v4: 17-74917242-G-A
MyVariant Identifiers: chr17:g.72913336G>A (hg19) chr17:g.74917242G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917242G>A , CM000679.2:g.74917242G>A GRCh38
NC_000017.10:g.72913336G>A , CM000679.1:g.72913336G>A GRCh37
NC_000017.9:g.70424931G>A NCBI36
NG_007882.1:g.11016C>T
NG_007882.2:g.11022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*831C>T MANE Select ENSP00000480279.1:n.*831C>T
ENST00000614341.4:c.*831C>T ENSP00000480279.1:n.*831C>T
NM_001282489.2:c.*831C>T NP_001269418.1:n.*831C>T
NM_173477.4:c.*831C>T NP_775748.2:n.*831C>T
XM_011524296.1:c.*831C>T XP_011522598.1:n.*831C>T
XM_011524296.2:c.*831C>T XP_011522598.1:n.*831C>T
NM_173477.5:c.*831C>T MANE Select NP_775748.2:n.*831C>T
NM_001282489.3:c.*831C>T NP_001269418.1:n.*831C>T
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