Canonical Allele Identifier: CA399605331

Gene: MLX

Linked Data

• gnomAD v4: 17-42571595-C-A
• MyVariant Identifiers: chr17:g.40723613C>A (hg19) ; chr17:g.42571595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571595C>A , CM000679.2:g.42571595C>A	GRCh38
NC_000017.10:g.40723613C>A , CM000679.1:g.40723613C>A	GRCh37
NC_000017.9:g.37977139C>A	NCBI36
NG_029442.1:g.9536C>A
NG_031960.1:g.11237G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.727C>A MANE Select	ENSP00000416627.1:p.Leu243Ile
ENST00000246912.8:c.889C>A	ENSP00000246912.3:p.Leu297Ile
ENST00000346833.8:c.637C>A	ENSP00000320913.3:p.Leu213Ile
ENST00000435881.6:c.727C>A	ENSP00000416627.1:p.Leu243Ile
ENST00000585403.5:n.934C>A
ENST00000588320.1:n.1203C>A
ENST00000590050.5:n.893C>A
NM_170607.2:c.889C>A	NP_733752.1:p.Leu297Ile
NM_198204.1:c.727C>A	NP_937847.1:p.Leu243Ile
NM_198205.1:c.637C>A	NP_937848.1:p.Leu213Ile
NM_198204.2:c.727C>A MANE Select	NP_937847.1:p.Leu243Ile
NM_170607.3:c.889C>A	NP_733752.1:p.Leu297Ile
NM_198205.2:c.637C>A	NP_937848.1:p.Leu213Ile