Canonical Allele Identifier: CA399605223

Gene: MLX

Linked Data

• MyVariant Identifiers: chr17:g.40723593T>A (hg19) ; chr17:g.42571575T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571575T>A , CM000679.2:g.42571575T>A	GRCh38
NC_000017.10:g.40723593T>A , CM000679.1:g.40723593T>A	GRCh37
NC_000017.9:g.37977119T>A	NCBI36
NG_029442.1:g.9516T>A
NG_031960.1:g.11257A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.707T>A MANE Select	ENSP00000416627.1:p.Leu236Gln
ENST00000246912.8:c.869T>A	ENSP00000246912.3:p.Leu290Gln
ENST00000346833.8:c.617T>A	ENSP00000320913.3:p.Leu206Gln
ENST00000435881.6:c.707T>A	ENSP00000416627.1:p.Leu236Gln
ENST00000585403.5:n.914T>A
ENST00000588320.1:n.1183T>A
ENST00000590050.5:n.873T>A
NM_170607.2:c.869T>A	NP_733752.1:p.Leu290Gln
NM_198204.1:c.707T>A	NP_937847.1:p.Leu236Gln
NM_198205.1:c.617T>A	NP_937848.1:p.Leu206Gln
NM_198204.2:c.707T>A MANE Select	NP_937847.1:p.Leu236Gln
NM_170607.3:c.869T>A	NP_733752.1:p.Leu290Gln
NM_198205.2:c.617T>A	NP_937848.1:p.Leu206Gln