Canonical Allele Identifier: CA1498567582
Gene: MAML3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139874183A= , CM000666.2:g.139874183A= GRCh38
NC_000004.11:g.140795337A= , CM000666.1:g.140795337A= GRCh37
NC_000004.10:g.141014787A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143516T=
ENST00000509479.6:c.2079+15174T= MANE Select ENSP00000421180.1:n.2079+15174T=
NM_018717.4:c.2067+15174T= NP_061187.2:n.2067+15174T=
NM_018717.5:c.2079+15174T= MANE Select NP_061187.3:n.2079+15174T=