Canonical Allele Identifier: CA1624304459
Community Standard Title: NM_006245.4(PPP2R5D):c.157C= (p.Pro53=)
Gene: PPP2R5D HGNC NCBI
MEA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43006514C= , CM000668.2:g.43006514C= GRCh38
NC_000006.11:g.42974252C= , CM000668.1:g.42974252C= GRCh37
NC_000006.10:g.43082230C= NCBI36
NG_050636.1:g.27016C=

Transcript Alleles

HGVS Amino-acid Change
NM_006245.4:c.157C= (PPP2R5D) MANE Select NP_006236.1:p.Pro53=
ENST00000485511.6:c.157C= (PPP2R5D) MANE Select ENSP00000417963.1:p.Pro53=
NM_001270476.1:c.-297C= (PPP2R5D) NP_001257405.1:n.-297C=
NM_001270476.2:c.-297C= (PPP2R5D) NP_001257405.1:n.-297C=
NM_006245.3:c.157C= (PPP2R5D) NP_006236.1:p.Pro53=
NM_180976.2:c.157C= (PPP2R5D) NP_851307.1:p.Pro53=
NM_180976.3:c.157C= (PPP2R5D) NP_851307.1:p.Pro53=
NM_180977.2:c.28-420C= (PPP2R5D) NP_851308.1:n.28-420C=
NM_180977.3:c.28-420C= (PPP2R5D) NP_851308.1:n.28-420C=
ENST00000230402.10:c.174C= (PPP2R5D) ENSP00000230402.6:p.His58=
ENST00000394110.7:c.157C= (PPP2R5D) ENSP00000377669.3:p.Pro53=
ENST00000461010.5:c.28-420C= (PPP2R5D) ENSP00000420674.1:n.28-420C=
ENST00000472118.5:c.133C= (PPP2R5D) ENSP00000420550.1:p.Pro45=
ENST00000485511.5:c.157C= (PPP2R5D) ENSP00000417963.1:p.Pro53=
XM_005249123.1:c.367+6412G= (MEA1) XP_005249180.1:n.367+6412G=
XM_017010868.1:c.367+6412G= (MEA1) XP_016866357.1:n.367+6412G=