Canonical Allele Identifier: CA8754031
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 1036097
ClinVar RCV Id: RCV001339050
dbSNP Id: rs774403004
ExAC: 17:72916284 A / G
gnomAD v2: 17-72916284-A-G
gnomAD v4: 17-74920189-A-G
MyVariant Identifiers: chr17:g.72916284A>G (hg19) chr17:g.74920189A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920189A>G , CM000679.2:g.74920189A>G GRCh38
NC_000017.10:g.72916284A>G , CM000679.1:g.72916284A>G GRCh37
NC_000017.9:g.70427879A>G NCBI36
NG_007882.1:g.8068T>C
NG_033062.1:g.915A>G
NG_007882.2:g.8075T>C
NG_033062.2:g.915A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.647T>C MANE Select ENSP00000480279.1:p.Met216Thr
ENST00000579243.1:c.*246T>C ENSP00000462568.1:n.*246T>C
ENST00000614341.4:c.647T>C ENSP00000480279.1:p.Met216Thr
NM_001282489.2:c.338T>C NP_001269418.1:p.Met113Thr
NM_173477.4:c.647T>C NP_775748.2:p.Met216Thr
XM_011524296.1:c.338T>C XP_011522598.1:p.Met113Thr
XM_011524296.2:c.338T>C XP_011522598.1:p.Met113Thr
NM_173477.5:c.647T>C MANE Select NP_775748.2:p.Met216Thr
NM_001282489.3:c.338T>C NP_001269418.1:p.Met113Thr
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