Canonical Allele Identifier: CA10577041
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 228199
ClinVar RCV Id: RCV000213575 RCV002057160
dbSNP Id: rs773660538
gnomAD v2: 17-72915959-A-G
gnomAD v3: 17-74919864-A-G
gnomAD v4: 17-74919864-A-G
MyVariant Identifiers: chr17:g.72915959A>G (hg19) chr17:g.74919864A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919864A>G , CM000679.2:g.74919864A>G GRCh38
NC_000017.10:g.72915959A>G , CM000679.1:g.72915959A>G GRCh37
NC_000017.9:g.70427554A>G NCBI36
NG_007882.1:g.8393T>C
NG_033062.1:g.590A>G
NG_007882.2:g.8400T>C
NG_033062.2:g.590A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.972T>C MANE Select ENSP00000480279.1:p.Ser324=
ENST00000579243.1:c.*571T>C ENSP00000462568.1:n.*571T>C
ENST00000614341.4:c.972T>C ENSP00000480279.1:p.Ser324=
NM_001282489.2:c.663T>C NP_001269418.1:p.Ser221=
NM_173477.4:c.972T>C NP_775748.2:p.Ser324=
XM_011524296.1:c.663T>C XP_011522598.1:p.Ser221=
XM_011524296.2:c.663T>C XP_011522598.1:p.Ser221=
NM_173477.5:c.972T>C MANE Select NP_775748.2:p.Ser324=
NM_001282489.3:c.663T>C NP_001269418.1:p.Ser221=
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