Canonical Allele Identifier: CA106766182
Gene: MAML3 HGNC NCBI

Linked Data

dbSNP Id: rs1004356734
gnomAD v2: 4-140795148-T-C
gnomAD v3: 4-139873994-T-C
gnomAD v4: 4-139873994-T-C
MyVariant Identifiers: chr4:g.140795148T>C (hg19) chr4:g.139873994T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139873994T>C , CM000666.2:g.139873994T>C GRCh38
NC_000004.11:g.140795148T>C , CM000666.1:g.140795148T>C GRCh37
NC_000004.10:g.141014598T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143327A>G
ENST00000509479.6:c.2079+15363A>G MANE Select ENSP00000421180.1:n.2079+15363A>G
NM_018717.4:c.2067+15363A>G NP_061187.2:n.2067+15363A>G
NM_018717.5:c.2079+15363A>G MANE Select NP_061187.3:n.2079+15363A>G
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