Canonical Allele Identifier: CA399605135

Gene: MLX

Linked Data

• gnomAD v4: 17-42571557-A-G
• MyVariant Identifiers: chr17:g.40723575A>G (hg19) ; chr17:g.42571557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571557A>G , CM000679.2:g.42571557A>G	GRCh38
NC_000017.10:g.40723575A>G , CM000679.1:g.40723575A>G	GRCh37
NC_000017.9:g.37977101A>G	NCBI36
NG_029442.1:g.9498A>G
NG_031960.1:g.11275T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.689A>G MANE Select	ENSP00000416627.1:p.Glu230Gly
ENST00000246912.8:c.851A>G	ENSP00000246912.3:p.Glu284Gly
ENST00000346833.8:c.599A>G	ENSP00000320913.3:p.Glu200Gly
ENST00000435881.6:c.689A>G	ENSP00000416627.1:p.Glu230Gly
ENST00000585403.5:n.896A>G
ENST00000588320.1:n.1165A>G
ENST00000590050.5:n.855A>G
NM_170607.2:c.851A>G	NP_733752.1:p.Glu284Gly
NM_198204.1:c.689A>G	NP_937847.1:p.Glu230Gly
NM_198205.1:c.599A>G	NP_937848.1:p.Glu200Gly
NM_198204.2:c.689A>G MANE Select	NP_937847.1:p.Glu230Gly
NM_170607.3:c.851A>G	NP_733752.1:p.Glu284Gly
NM_198205.2:c.599A>G	NP_937848.1:p.Glu200Gly