Canonical Allele Identifier: CA106766178

Gene: MAML3

Linked Data

• dbSNP Id: rs896571548
• gnomAD v2: 4-140795138-G-A
• gnomAD v3: 4-139873984-G-A
• gnomAD v4: 4-139873984-G-A
• MyVariant Identifiers: chr4:g.140795138G>A (hg19) ; chr4:g.139873984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139873984G>A , CM000666.2:g.139873984G>A	GRCh38
NC_000004.11:g.140795138G>A , CM000666.1:g.140795138G>A	GRCh37
NC_000004.10:g.141014588G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502696.1:c.111-143317C>T
ENST00000509479.6:c.2079+15373C>T MANE Select	ENSP00000421180.1:n.2079+15373C>T
NM_018717.4:c.2067+15373C>T	NP_061187.2:n.2067+15373C>T
NM_018717.5:c.2079+15373C>T MANE Select	NP_061187.3:n.2079+15373C>T