Canonical Allele Identifier: CA106766246
Gene: MAML3 HGNC NCBI

Linked Data

dbSNP Id: rs77723745
gnomAD v2: 4-140795330-T-A
gnomAD v3: 4-139874176-T-A
gnomAD v4: 4-139874176-T-A
MyVariant Identifiers: chr4:g.140795330T>A (hg19) chr4:g.139874176T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139874176T>A , CM000666.2:g.139874176T>A GRCh38
NC_000004.11:g.140795330T>A , CM000666.1:g.140795330T>A GRCh37
NC_000004.10:g.141014780T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143509A>T
ENST00000509479.6:c.2079+15181A>T MANE Select ENSP00000421180.1:n.2079+15181A>T
NM_018717.4:c.2067+15181A>T NP_061187.2:n.2067+15181A>T
NM_018717.5:c.2079+15181A>T MANE Select NP_061187.3:n.2079+15181A>T
Search 100 bp 5'
Search 100 bp 3'