Canonical Allele Identifier: CA555045453
Gene: MAML3 HGNC NCBI

Linked Data

dbSNP Id: rs1483581474
gnomAD v2: 4-140795365-G-C
MyVariant Identifiers: chr4:g.140795365G>C (hg19) chr4:g.139874211G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139874211G>C , CM000666.2:g.139874211G>C GRCh38
NC_000004.11:g.140795365G>C , CM000666.1:g.140795365G>C GRCh37
NC_000004.10:g.141014815G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143544C>G
ENST00000509479.6:c.2079+15146C>G MANE Select ENSP00000421180.1:n.2079+15146C>G
NM_018717.4:c.2067+15146C>G NP_061187.2:n.2067+15146C>G
NM_018717.5:c.2079+15146C>G MANE Select NP_061187.3:n.2079+15146C>G
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