Canonical Allele Identifier: CA1068725760
Gene: MAML3 HGNC NCBI

Linked Data

dbSNP Id: rs1732066042
gnomAD v3: 4-139874188-T-A
gnomAD v4: 4-139874188-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139874188T>A , CM000666.2:g.139874188T>A GRCh38
NC_000004.11:g.140795342T>A , CM000666.1:g.140795342T>A GRCh37
NC_000004.10:g.141014792T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143521A>T
ENST00000509479.6:c.2079+15169A>T MANE Select ENSP00000421180.1:n.2079+15169A>T
NM_018717.4:c.2067+15169A>T NP_061187.2:n.2067+15169A>T
NM_018717.5:c.2079+15169A>T MANE Select NP_061187.3:n.2079+15169A>T
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