Canonical Allele Identifier: CA106766250
Gene: MAML3 HGNC NCBI

Linked Data

dbSNP Id: rs550535549
gnomAD v3: 4-139874217-G-C
gnomAD v4: 4-139874217-G-C
MyVariant Identifiers: chr4:g.140795371G>C (hg19) chr4:g.139874217G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139874217G>C , CM000666.2:g.139874217G>C GRCh38
NC_000004.11:g.140795371G>C , CM000666.1:g.140795371G>C GRCh37
NC_000004.10:g.141014821G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143550C>G
ENST00000509479.6:c.2079+15140C>G MANE Select ENSP00000421180.1:n.2079+15140C>G
NM_018717.4:c.2067+15140C>G NP_061187.2:n.2067+15140C>G
NM_018717.5:c.2079+15140C>G MANE Select NP_061187.3:n.2079+15140C>G
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