Canonical Allele Identifier: CA399605339
Gene: MLX HGNC NCBI

Linked Data

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