Canonical Allele Identifier: CA353367061
Community Standard Title: NM_138805.3(FAM3D):c.341T>C (p.Leu114Pro)
Gene: FAM3D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58640159A>G , CM000665.2:g.58640159A>G GRCh38
NC_000003.11:g.58625886A>G , CM000665.1:g.58625886A>G GRCh37
NC_000003.10:g.58600926A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_138805.3:c.341T>C MANE Select NP_620160.1:p.Leu114Pro
ENST00000358781.7:c.341T>C MANE Select ENSP00000351632.2:p.Leu114Pro
NM_138805.2:c.341T>C NP_620160.1:p.Leu114Pro
ENST00000358781.6:c.341T>C ENSP00000351632.2:p.Leu114Pro
ENST00000482623.5:c.*189T>C ENSP00000418414.1:n.*189T>C
ENST00000483787.5:c.338T>C ENSP00000417099.1:p.Leu113Pro
ENST00000489857.5:c.230T>C ENSP00000417453.1:p.Leu77Pro
XM_005264862.3:c.341T>C XP_005264919.1:p.Leu114Pro
XM_005264862.4:c.341T>C XP_005264919.1:p.Leu114Pro
XM_005264863.3:c.338T>C XP_005264920.1:p.Leu113Pro
XM_005264863.4:c.338T>C XP_005264920.1:p.Leu113Pro
XM_005264864.3:c.338T>C XP_005264921.1:p.Leu113Pro
XM_005264864.4:c.338T>C XP_005264921.1:p.Leu113Pro
XM_006712965.2:c.341T>C XP_006713028.1:p.Leu114Pro
XM_006712965.3:c.341T>C XP_006713028.1:p.Leu114Pro
XM_006712967.2:c.230T>C XP_006713030.1:p.Leu77Pro
XM_006712967.3:c.230T>C XP_006713030.1:p.Leu77Pro
XM_011533348.1:c.359T>C XP_011531650.1:p.Leu120Pro
XM_011533348.2:c.359T>C XP_011531650.1:p.Leu120Pro
XM_011533349.1:c.359T>C XP_011531651.1:p.Leu120Pro
XM_011533349.3:c.359T>C XP_011531651.1:p.Leu120Pro
XM_011533350.1:c.356T>C XP_011531652.1:p.Leu119Pro
XM_011533350.2:c.356T>C XP_011531652.1:p.Leu119Pro
XM_011533351.1:c.341T>C XP_011531653.1:p.Leu114Pro
XM_011533351.2:c.341T>C XP_011531653.1:p.Leu114Pro
XM_011533352.1:c.233T>C XP_011531654.1:p.Leu78Pro
XM_011533352.2:c.233T>C XP_011531654.1:p.Leu78Pro
XM_011533353.1:c.233T>C XP_011531655.1:p.Leu78Pro
XM_011533353.2:c.233T>C XP_011531655.1:p.Leu78Pro
XM_011533354.1:c.230T>C XP_011531656.1:p.Leu77Pro
XM_011533354.2:c.230T>C XP_011531656.1:p.Leu77Pro