Canonical Allele Identifier: CA555045440
Gene: MAML3 HGNC NCBI

Linked Data

dbSNP Id: rs1362429573
gnomAD v2: 4-140795160-A-G
gnomAD v3: 4-139874006-A-G
gnomAD v4: 4-139874006-A-G
MyVariant Identifiers: chr4:g.140795160A>G (hg19) chr4:g.139874006A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139874006A>G , CM000666.2:g.139874006A>G GRCh38
NC_000004.11:g.140795160A>G , CM000666.1:g.140795160A>G GRCh37
NC_000004.10:g.141014610A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143339T>C
ENST00000509479.6:c.2079+15351T>C MANE Select ENSP00000421180.1:n.2079+15351T>C
NM_018717.4:c.2067+15351T>C NP_061187.2:n.2067+15351T>C
NM_018717.5:c.2079+15351T>C MANE Select NP_061187.3:n.2079+15351T>C
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