Canonical Allele Identifier: CA2421914
Community Standard Title: NM_004947.5(DOCK3):c.5020A>T (p.Met1674Leu)
Gene: DOCK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51361872A>T , CM000665.2:g.51361872A>T GRCh38
NC_000003.11:g.51399303A>T , CM000665.1:g.51399303A>T GRCh37
NC_000003.10:g.51374343A>T NCBI36
NG_028012.1:g.691632A>T
NG_028012.2:g.691632A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004947.5:c.5020A>T MANE Select NP_004938.1:p.Met1674Leu
ENST00000266037.10:c.5020A>T MANE Select ENSP00000266037.8:p.Met1674Leu
NM_004947.4:c.5020A>T NP_004938.1:p.Met1674Leu
ENST00000266037.9:c.5020A>T ENSP00000266037.8:p.Met1674Leu
XM_005264914.2:c.5020A>T XP_005264971.1:p.Met1674Leu
XM_005264914.3:c.5020A>T XP_005264971.1:p.Met1674Leu
XM_005264915.2:c.5020A>T XP_005264972.1:p.Met1674Leu
XM_005264915.3:c.5020A>T XP_005264972.1:p.Met1674Leu
XM_005264916.2:c.4993A>T XP_005264973.1:p.Met1665Leu
XM_005264916.4:c.4993A>T XP_005264973.1:p.Met1665Leu
XM_005264917.2:c.4978A>T XP_005264974.1:p.Met1660Leu
XM_005264917.3:c.4978A>T XP_005264974.1:p.Met1660Leu
XM_005264918.2:c.4873A>T XP_005264975.1:p.Met1625Leu
XM_005264918.4:c.4873A>T XP_005264975.1:p.Met1625Leu
XM_006713008.2:c.5007-50A>T XP_006713071.1:n.5007-50A>T
XM_006713008.3:c.5007-50A>T XP_006713071.1:n.5007-50A>T
XM_006713009.2:c.4933A>T XP_006713072.1:p.Met1645Leu
XM_006713009.3:c.4933A>T XP_006713072.1:p.Met1645Leu
XM_006713010.2:c.5020A>T XP_006713073.1:p.Met1674Leu
XM_006713010.3:c.5020A>T XP_006713073.1:p.Met1674Leu
XM_011533441.1:c.3985A>T XP_011531743.1:p.Met1329Leu
XM_011533441.3:c.3985A>T XP_011531743.1:p.Met1329Leu
XM_011533442.1:c.2770A>T XP_011531744.1:p.Met924Leu
XM_011533443.1:c.2332A>T XP_011531745.1:p.Met778Leu
XM_011533443.2:c.2332A>T XP_011531745.1:p.Met778Leu
XM_011533444.1:c.2332A>T XP_011531746.1:p.Met778Leu
XM_011533444.2:c.2332A>T XP_011531746.1:p.Met778Leu
XM_011533445.1:c.2158A>T XP_011531747.1:p.Met720Leu
XM_011533445.2:c.2158A>T XP_011531747.1:p.Met720Leu
XM_017005825.2:c.5020A>T XP_016861314.1:p.Met1674Leu
XM_017005826.2:c.5020A>T XP_016861315.1:p.Met1674Leu
XM_017005827.2:c.4207A>T XP_016861316.1:p.Met1403Leu
XM_017005828.1:c.2158A>T XP_016861317.1:p.Met720Leu