Canonical Allele Identifier: CA1708404
Gene: EXOC6B HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72492403C>T , CM000664.2:g.72492403C>T GRCh38
NC_000002.11:g.72719532C>T , CM000664.1:g.72719532C>T GRCh37
NC_000002.10:g.72573040C>T NCBI36
NG_050967.1:g.338646G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272427.11:c.1580G>A MANE Select ENSP00000272427.7:p.Arg527Gln
ENST00000272427.10:c.1580G>A ENSP00000272427.6:p.Arg527Gln
ENST00000410104.1:c.1580G>A ENSP00000386698.1:p.Arg527Gln
ENST00000464347.2:n.137G>A
ENST00000634650.1:c.1580G>A ENSP00000489442.1:p.Arg527Gln
NM_015189.1:c.1580G>A NP_056004.1:p.Arg527Gln
XM_005264223.1:c.1580G>A XP_005264280.1:p.Arg527Gln
XM_005264224.1:c.584G>A XP_005264281.1:p.Arg195Gln
XM_011532710.1:c.1511G>A XP_011531012.1:p.Arg504Gln
XM_011532711.1:c.1580G>A XP_011531013.1:p.Arg527Gln
XM_011532712.1:c.1580G>A XP_011531014.1:p.Arg527Gln
NM_001321729.1:c.1580G>A NP_001308658.1:p.Arg527Gln
NM_001321730.1:c.1580G>A NP_001308659.1:p.Arg527Gln
NM_001321731.1:c.1580G>A NP_001308660.1:p.Arg527Gln
NM_001321733.1:c.1580G>A NP_001308662.1:p.Arg527Gln
NM_001321734.1:c.1241G>A NP_001308663.1:p.Arg414Gln
NM_015189.2:c.1580G>A NP_056004.1:p.Arg527Gln
NR_135773.1:n.1712G>A
NR_135774.1:n.1712G>A
XM_011532711.3:c.1580G>A XP_011531013.1:p.Arg527Gln
XM_011532712.3:c.1580G>A XP_011531014.1:p.Arg527Gln
XM_017003641.1:c.1034G>A XP_016859130.1:p.Arg345Gln
XM_017003642.1:c.584G>A XP_016859131.1:p.Arg195Gln
NM_001321729.2:c.1580G>A NP_001308658.1:p.Arg527Gln
NM_001321730.2:c.1580G>A NP_001308659.1:p.Arg527Gln
NM_001321731.2:c.1580G>A NP_001308660.1:p.Arg527Gln
NM_001321733.2:c.1580G>A NP_001308662.1:p.Arg527Gln
NM_001321734.2:c.1241G>A NP_001308663.1:p.Arg414Gln
NM_015189.3:c.1580G>A MANE Select NP_056004.1:p.Arg527Gln
NR_135773.2:n.1703G>A
NR_135774.2:n.1703G>A