Canonical Allele Identifier: CA290776603

Gene: MLX

Linked Data

• dbSNP Id: rs537926296
• gnomAD v2: 17-40723448-G-A
• gnomAD v3: 17-42571430-G-A
• gnomAD v4: 17-42571430-G-A
• MyVariant Identifiers: chr17:g.40723448G>A (hg19) ; chr17:g.42571430G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571430G>A , CM000679.2:g.42571430G>A	GRCh38
NC_000017.10:g.40723448G>A , CM000679.1:g.40723448G>A	GRCh37
NC_000017.9:g.37976974G>A	NCBI36
NG_029442.1:g.9371G>A
NG_031960.1:g.11402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.679-117G>A MANE Select	ENSP00000416627.1:n.679-117G>A
ENST00000246912.8:c.841-117G>A	ENSP00000246912.3:n.841-117G>A
ENST00000346833.8:c.589-117G>A	ENSP00000320913.3:n.589-117G>A
ENST00000435881.6:c.679-117G>A	ENSP00000416627.1:n.679-117G>A
ENST00000585403.5:n.886-117G>A
ENST00000588320.1:n.1155-117G>A
ENST00000590050.5:n.845-117G>A
NM_170607.2:c.841-117G>A	NP_733752.1:n.841-117G>A
NM_198204.1:c.679-117G>A	NP_937847.1:n.679-117G>A
NM_198205.1:c.589-117G>A	NP_937848.1:n.589-117G>A
NM_198204.2:c.679-117G>A MANE Select	NP_937847.1:n.679-117G>A
NM_170607.3:c.841-117G>A	NP_733752.1:n.841-117G>A
NM_198205.2:c.589-117G>A	NP_937848.1:n.589-117G>A