Canonical Allele Identifier: CA2605111295
Gene: MAML3 HGNC NCBI

Linked Data

dbSNP Id: rs2111179655
gnomAD v3: 4-139874175-G-T
gnomAD v4: 4-139874175-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139874175G>T , CM000666.2:g.139874175G>T GRCh38
NC_000004.11:g.140795329G>T , CM000666.1:g.140795329G>T GRCh37
NC_000004.10:g.141014779G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143508C>A
ENST00000509479.6:c.2079+15182C>A MANE Select ENSP00000421180.1:n.2079+15182C>A
NM_018717.4:c.2067+15182C>A NP_061187.2:n.2067+15182C>A
NM_018717.5:c.2079+15182C>A MANE Select NP_061187.3:n.2079+15182C>A
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