Canonical Allele Identifier: CA788038052

Gene: MAML3

Linked Data

• dbSNP Id: rs1399304032
• gnomAD v3: 4-139874197-C-G
• gnomAD v4: 4-139874197-C-G
• MyVariant Identifiers: chr4:g.140795351C>G (hg19) ; chr4:g.139874197C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139874197C>G , CM000666.2:g.139874197C>G	GRCh38
NC_000004.11:g.140795351C>G , CM000666.1:g.140795351C>G	GRCh37
NC_000004.10:g.141014801C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502696.1:c.111-143530G>C
ENST00000509479.6:c.2079+15160G>C MANE Select	ENSP00000421180.1:n.2079+15160G>C
NM_018717.4:c.2067+15160G>C	NP_061187.2:n.2067+15160G>C
NM_018717.5:c.2079+15160G>C MANE Select	NP_061187.3:n.2079+15160G>C