Canonical Allele Identifier: CA399605339

Gene: MLX

Linked Data

• MyVariant Identifiers: chr17:g.40723614T>G (hg19) ; chr17:g.42571596T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571596T>G , CM000679.2:g.42571596T>G	GRCh38
NC_000017.10:g.40723614T>G , CM000679.1:g.40723614T>G	GRCh37
NC_000017.9:g.37977140T>G	NCBI36
NG_029442.1:g.9537T>G
NG_031960.1:g.11236A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.728T>G MANE Select	ENSP00000416627.1:p.Leu243Arg
ENST00000246912.8:c.890T>G	ENSP00000246912.3:p.Leu297Arg
ENST00000346833.8:c.638T>G	ENSP00000320913.3:p.Leu213Arg
ENST00000435881.6:c.728T>G	ENSP00000416627.1:p.Leu243Arg
ENST00000585403.5:n.935T>G
ENST00000588320.1:n.1204T>G
ENST00000590050.5:n.894T>G
NM_170607.2:c.890T>G	NP_733752.1:p.Leu297Arg
NM_198204.1:c.728T>G	NP_937847.1:p.Leu243Arg
NM_198205.1:c.638T>G	NP_937848.1:p.Leu213Arg
NM_198204.2:c.728T>G MANE Select	NP_937847.1:p.Leu243Arg
NM_170607.3:c.890T>G	NP_733752.1:p.Leu297Arg
NM_198205.2:c.638T>G	NP_937848.1:p.Leu213Arg