Canonical Allele Identifier: CA16617751
Gene: EXOC6B HGNC NCBI

Linked Data

ClinVar Variation Id: 421388
ClinVar RCV Id: RCV000484056
dbSNP Id: rs1064795104

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72498492A>C , CM000664.2:g.72498492A>C GRCh38
NC_000002.11:g.72725621A>C , CM000664.1:g.72725621A>C GRCh37
NC_000002.10:g.72579129A>C NCBI36
NG_050967.1:g.332557T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272427.11:c.1299T>G MANE Select ENSP00000272427.7:p.Tyr433Ter
ENST00000272427.10:c.1299T>G ENSP00000272427.6:p.Tyr433Ter
ENST00000410104.1:c.1299T>G ENSP00000386698.1:p.Tyr433Ter
ENST00000410112.6:c.*1010T>G ENSP00000386634.2:n.*1010T>G
ENST00000634650.1:c.1299T>G ENSP00000489442.1:p.Tyr433Ter
NM_015189.1:c.1299T>G NP_056004.1:p.Tyr433Ter
XM_005264223.1:c.1299T>G XP_005264280.1:p.Tyr433Ter
XM_005264224.1:c.303T>G XP_005264281.1:p.Tyr101Ter
XM_011532710.1:c.1230T>G XP_011531012.1:p.Tyr410Ter
XM_011532711.1:c.1299T>G XP_011531013.1:p.Tyr433Ter
XM_011532712.1:c.1299T>G XP_011531014.1:p.Tyr433Ter
NM_001321729.1:c.1299T>G NP_001308658.1:p.Tyr433Ter
NM_001321730.1:c.1299T>G NP_001308659.1:p.Tyr433Ter
NM_001321731.1:c.1299T>G NP_001308660.1:p.Tyr433Ter
NM_001321733.1:c.1299T>G NP_001308662.1:p.Tyr433Ter
NM_001321734.1:c.960T>G NP_001308663.1:p.Tyr320Ter
NM_015189.2:c.1299T>G NP_056004.1:p.Tyr433Ter
NR_135773.1:n.1431T>G
NR_135774.1:n.1431T>G
XM_011532711.3:c.1299T>G XP_011531013.1:p.Tyr433Ter
XM_011532712.3:c.1299T>G XP_011531014.1:p.Tyr433Ter
XM_017003641.1:c.753T>G XP_016859130.1:p.Tyr251Ter
XM_017003642.1:c.303T>G XP_016859131.1:p.Tyr101Ter
NM_001321729.2:c.1299T>G NP_001308658.1:p.Tyr433Ter
NM_001321730.2:c.1299T>G NP_001308659.1:p.Tyr433Ter
NM_001321731.2:c.1299T>G NP_001308660.1:p.Tyr433Ter
NM_001321733.2:c.1299T>G NP_001308662.1:p.Tyr433Ter
NM_001321734.2:c.960T>G NP_001308663.1:p.Tyr320Ter
NM_015189.3:c.1299T>G MANE Select NP_056004.1:p.Tyr433Ter
NR_135773.2:n.1422T>G
NR_135774.2:n.1422T>G