Canonical Allele Identifier: CA555045448
Gene: MAML3 HGNC NCBI

Linked Data

gnomAD v2: 4-140795291-G-A
MyVariant Identifiers: chr4:g.140795291G>A (hg19) chr4:g.139874137G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139874137G>A , CM000666.2:g.139874137G>A GRCh38
NC_000004.11:g.140795291G>A , CM000666.1:g.140795291G>A GRCh37
NC_000004.10:g.141014741G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143470C>T
ENST00000509479.6:c.2079+15220C>T MANE Select ENSP00000421180.1:n.2079+15220C>T
NM_018717.4:c.2067+15220C>T NP_061187.2:n.2067+15220C>T
NM_018717.5:c.2079+15220C>T MANE Select NP_061187.3:n.2079+15220C>T
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