Canonical Allele Identifier: CA399605275

Gene: MLX

Linked Data

• dbSNP Id: rs2093033039
• MyVariant Identifiers: chr17:g.40723603G>T (hg19) ; chr17:g.42571585G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571585G>T , CM000679.2:g.42571585G>T	GRCh38
NC_000017.10:g.40723603G>T , CM000679.1:g.40723603G>T	GRCh37
NC_000017.9:g.37977129G>T	NCBI36
NG_029442.1:g.9526G>T
NG_031960.1:g.11247C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.717G>T MANE Select	ENSP00000416627.1:p.Leu239Phe
ENST00000246912.8:c.879G>T	ENSP00000246912.3:p.Leu293Phe
ENST00000346833.8:c.627G>T	ENSP00000320913.3:p.Leu209Phe
ENST00000435881.6:c.717G>T	ENSP00000416627.1:p.Leu239Phe
ENST00000585403.5:n.924G>T
ENST00000588320.1:n.1193G>T
ENST00000590050.5:n.883G>T
NM_170607.2:c.879G>T	NP_733752.1:p.Leu293Phe
NM_198204.1:c.717G>T	NP_937847.1:p.Leu239Phe
NM_198205.1:c.627G>T	NP_937848.1:p.Leu209Phe
NM_198204.2:c.717G>T MANE Select	NP_937847.1:p.Leu239Phe
NM_170607.3:c.879G>T	NP_733752.1:p.Leu293Phe
NM_198205.2:c.627G>T	NP_937848.1:p.Leu209Phe