Canonical Allele Identifier: CA290776770

Gene: MLX

Linked Data

• dbSNP Id: rs543511292
• gnomAD v2: 17-40723598-C-G
• gnomAD v3: 17-42571580-C-G
• gnomAD v4: 17-42571580-C-G
• MyVariant Identifiers: chr17:g.40723598C>G (hg19) ; chr17:g.42571580C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571580C>G , CM000679.2:g.42571580C>G	GRCh38
NC_000017.10:g.40723598C>G , CM000679.1:g.40723598C>G	GRCh37
NC_000017.9:g.37977124C>G	NCBI36
NG_029442.1:g.9521C>G
NG_031960.1:g.11252G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.712C>G MANE Select	ENSP00000416627.1:p.Gln238Glu
ENST00000246912.8:c.874C>G	ENSP00000246912.3:p.Gln292Glu
ENST00000346833.8:c.622C>G	ENSP00000320913.3:p.Gln208Glu
ENST00000435881.6:c.712C>G	ENSP00000416627.1:p.Gln238Glu
ENST00000585403.5:n.919C>G
ENST00000588320.1:n.1188C>G
ENST00000590050.5:n.878C>G
NM_170607.2:c.874C>G	NP_733752.1:p.Gln292Glu
NM_198204.1:c.712C>G	NP_937847.1:p.Gln238Glu
NM_198205.1:c.622C>G	NP_937848.1:p.Gln208Glu
NM_198204.2:c.712C>G MANE Select	NP_937847.1:p.Gln238Glu
NM_170607.3:c.874C>G	NP_733752.1:p.Gln292Glu
NM_198205.2:c.622C>G	NP_937848.1:p.Gln208Glu