Canonical Allele Identifier: CA352962505
Gene: DOCK3 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51260220G>T , CM000665.2:g.51260220G>T GRCh38
NC_000003.11:g.51297651G>T , CM000665.1:g.51297651G>T GRCh37
NC_000003.10:g.51272691G>T NCBI36
NG_028012.1:g.589980G>T
NG_028012.2:g.589980G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266037.10:c.2249G>T MANE Select ENSP00000266037.8:p.Gly750Val
ENST00000266037.9:c.2249G>T ENSP00000266037.8:p.Gly750Val
NM_004947.4:c.2249G>T NP_004938.1:p.Gly750Val
XM_005264914.2:c.2249G>T XP_005264971.1:p.Gly750Val
XM_005264915.2:c.2249G>T XP_005264972.1:p.Gly750Val
XM_005264916.2:c.2249G>T XP_005264973.1:p.Gly750Val
XM_005264917.2:c.2249G>T XP_005264974.1:p.Gly750Val
XM_005264918.2:c.2249G>T XP_005264975.1:p.Gly750Val
XM_006713008.2:c.2249G>T XP_006713071.1:p.Gly750Val
XM_006713009.2:c.2249G>T XP_006713072.1:p.Gly750Val
XM_006713010.2:c.2249G>T XP_006713073.1:p.Gly750Val
XM_011533441.1:c.1214G>T XP_011531743.1:p.Gly405Val
XM_011533442.1:c.-2G>T XP_011531744.1:n.-2G>T
XM_011533446.1:c.2249G>T XP_011531748.1:p.Gly750Val
XM_005264914.3:c.2249G>T XP_005264971.1:p.Gly750Val
XM_005264915.3:c.2249G>T XP_005264972.1:p.Gly750Val
XM_005264916.4:c.2249G>T XP_005264973.1:p.Gly750Val
XM_005264917.3:c.2249G>T XP_005264974.1:p.Gly750Val
XM_005264918.4:c.2249G>T XP_005264975.1:p.Gly750Val
XM_006713008.3:c.2249G>T XP_006713071.1:p.Gly750Val
XM_006713009.3:c.2249G>T XP_006713072.1:p.Gly750Val
XM_006713010.3:c.2249G>T XP_006713073.1:p.Gly750Val
XM_011533441.3:c.1214G>T XP_011531743.1:p.Gly405Val
XM_017005825.2:c.2249G>T XP_016861314.1:p.Gly750Val
XM_017005826.2:c.2249G>T XP_016861315.1:p.Gly750Val
XM_017005827.2:c.1436G>T XP_016861316.1:p.Gly479Val
NM_004947.5:c.2249G>T MANE Select NP_004938.1:p.Gly750Val