Canonical Allele Identifier: CA8321722
Gene: USP6 HGNC NCBI

Linked Data

dbSNP Id: rs9899177
ExAC: 17:5058808 G / A
gnomAD v2: 17-5058808-G-A
gnomAD v3: 17-5155513-G-A
gnomAD v4: 17-5155513-G-A
MyVariant Identifiers: chr17:g.5058808G>A (hg19) chr17:g.5155513G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5155513G>A , CM000679.2:g.5155513G>A GRCh38
NC_000017.10:g.5058808G>A , CM000679.1:g.5058808G>A GRCh37
NC_000017.9:g.4999532G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000574788.6:c.2735G>A MANE Select ENSP00000460380.1:p.Arg912Gln
ENST00000250066.6:c.2735G>A ENSP00000250066.6:p.Arg912Gln
ENST00000572949.5:c.*262G>A ENSP00000461581.1:n.*262G>A
ENST00000574788.5:c.2735G>A ENSP00000460380.1:p.Arg912Gln
ENST00000575709.5:c.*1815G>A ENSP00000461817.1:n.*1815G>A
NM_001304284.1:c.2735G>A NP_001291213.1:p.Arg912Gln
NM_004505.3:c.2735G>A NP_004496.2:p.Arg912Gln
XM_011524049.1:c.2735G>A XP_011522351.1:p.Arg912Gln
XM_011524050.1:c.2735G>A XP_011522352.1:p.Arg912Gln
XM_011524051.1:c.2735G>A XP_011522353.1:p.Arg912Gln
XM_011524052.1:c.2735G>A XP_011522354.1:p.Arg912Gln
XM_011524053.1:c.2735G>A XP_011522355.1:p.Arg912Gln
XM_011524054.1:c.2735G>A XP_011522356.1:p.Arg912Gln
XM_011524055.1:c.2735G>A XP_011522357.1:p.Arg912Gln
XM_011524056.1:c.2735G>A XP_011522358.1:p.Arg912Gln
XM_011524057.1:c.2669G>A XP_011522359.1:p.Arg890Gln
XM_011524058.1:c.2735G>A XP_011522360.1:p.Arg912Gln
XM_011524051.2:c.2735G>A XP_011522353.1:p.Arg912Gln
XM_011524052.2:c.2735G>A XP_011522354.1:p.Arg912Gln
XM_011524053.2:c.2735G>A XP_011522355.1:p.Arg912Gln
XM_011524054.2:c.2735G>A XP_011522356.1:p.Arg912Gln
XM_011524055.2:c.2735G>A XP_011522357.1:p.Arg912Gln
XM_011524056.2:c.2735G>A XP_011522358.1:p.Arg912Gln
XM_011524057.2:c.2669G>A XP_011522359.1:p.Arg890Gln
XM_011524058.2:c.2735G>A XP_011522360.1:p.Arg912Gln
XM_017025290.1:c.2735G>A XP_016880779.1:p.Arg912Gln
NM_001304284.2:c.2735G>A MANE Select NP_001291213.1:p.Arg912Gln
NM_004505.4:c.2735G>A NP_004496.2:p.Arg912Gln
Search 100 bp 5'
Search 100 bp 3'