Canonical Allele Identifier: CA3219203029
Community Standard Title: NM_024675.4(PALB2):c.136C= (p.His46=)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637925G= , CM000678.2:g.23637925G= GRCh38
NC_000016.9:g.23649246G= , CM000678.1:g.23649246G= GRCh37
NC_000016.8:g.23556747G= NCBI36
NG_007406.1:g.8433C= , LRG_308:g.8433C=

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.136C= MANE Select NP_078951.2:p.His46=
ENST00000261584.9:c.136C= MANE Select ENSP00000261584.4:p.His46=
NM_024675.3:c.136C= , LRG_308t1:c.136C= NP_078951.2:p.His46=
ENST00000261584.8:c.136C= ENSP00000261584.4:p.His46=
ENST00000561514.1:c.142C= ENSP00000460666.1:p.His48=
ENST00000561514.2:c.-750C= ENSP00000460666.2:n.-750C=
ENST00000561514.3:c.142C= ENSP00000460666.3:p.His48=
ENST00000565038.1:c.11C=
ENST00000565038.2:c.136C= ENSP00000459882.2:p.His46=
ENST00000566069.6:c.136C= ENSP00000459237.2:p.His46=
ENST00000567003.1:n.414C=
ENST00000568219.5:c.-750C= ENSP00000454703.2:n.-750C=
ENST00000697374.1:c.-750C= ENSP00000513284.1:n.-750C=
ENST00000697375.1:n.1483C=
ENST00000697376.1:c.-750C= ENSP00000513285.1:n.-750C=
ENST00000697377.1:c.-750C= ENSP00000513286.1:n.-750C=
ENST00000697377.2:c.142C= ENSP00000513286.2:p.His48=
ENST00000697378.1:n.656C=
ENST00000697379.1:c.-750C= ENSP00000513287.1:n.-750C=
ENST00000697379.2:c.142C= ENSP00000513287.2:p.His48=
ENST00000697382.1:c.-750C= ENSP00000513288.1:n.-750C=
ENST00000697383.1:c.48+3185C= ENSP00000513289.1:n.48+3185C=
ENST00000697384.1:n.290C=
XM_011545946.1:c.142C= XP_011544248.1:p.His48=
XM_011545946.2:c.142C= XP_011544248.1:p.His48=
XM_011545947.1:c.142C= XP_011544249.1:p.His48=
XM_011545947.2:c.142C= XP_011544249.1:p.His48=
XM_011545948.1:c.-750C= XP_011544250.1:n.-750C=
XM_011545948.2:c.-750C= XP_011544250.1:n.-750C=
XM_017023671.1:c.142C= XP_016879160.1:p.His48=
XM_017023672.2:c.136C= XP_016879161.1:p.His46=
XM_017023673.2:c.136C= XP_016879162.1:p.His46=
XR_950851.1:n.932C=