Canonical Allele Identifier: CA1498567335
Gene: MAML3 HGNC NCBI

Linked Data

dbSNP Id: rs1732059870
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139873867C>G , CM000666.2:g.139873867C>G GRCh38
NC_000004.11:g.140795021C>G , CM000666.1:g.140795021C>G GRCh37
NC_000004.10:g.141014471C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143200G>C
ENST00000509479.6:c.2079+15490G>C MANE Select ENSP00000421180.1:n.2079+15490G>C
NM_018717.4:c.2067+15490G>C NP_061187.2:n.2067+15490G>C
NM_018717.5:c.2079+15490G>C MANE Select NP_061187.3:n.2079+15490G>C
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