Canonical Allele Identifier: CA106766129

Gene: MAML3

Linked Data

• dbSNP Id: rs775944943
• gnomAD v2: 4-140795035-A-C
• gnomAD v3: 4-139873881-A-C
• gnomAD v4: 4-139873881-A-C
• MyVariant Identifiers: chr4:g.140795035A>C (hg19) ; chr4:g.139873881A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139873881A>C , CM000666.2:g.139873881A>C	GRCh38
NC_000004.11:g.140795035A>C , CM000666.1:g.140795035A>C	GRCh37
NC_000004.10:g.141014485A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502696.1:c.111-143214T>G
ENST00000509479.6:c.2079+15476T>G MANE Select	ENSP00000421180.1:n.2079+15476T>G
NM_018717.4:c.2067+15476T>G	NP_061187.2:n.2067+15476T>G
NM_018717.5:c.2079+15476T>G MANE Select	NP_061187.3:n.2079+15476T>G