Canonical Allele Identifier: CA399605152

Gene: MLX

Linked Data

• gnomAD v4: 17-42571559-A-G
• MyVariant Identifiers: chr17:g.40723577A>G (hg19) ; chr17:g.42571559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571559A>G , CM000679.2:g.42571559A>G	GRCh38
NC_000017.10:g.40723577A>G , CM000679.1:g.40723577A>G	GRCh37
NC_000017.9:g.37977103A>G	NCBI36
NG_029442.1:g.9500A>G
NG_031960.1:g.11273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.691A>G MANE Select	ENSP00000416627.1:p.Ile231Val
ENST00000246912.8:c.853A>G	ENSP00000246912.3:p.Ile285Val
ENST00000346833.8:c.601A>G	ENSP00000320913.3:p.Ile201Val
ENST00000435881.6:c.691A>G	ENSP00000416627.1:p.Ile231Val
ENST00000585403.5:n.898A>G
ENST00000588320.1:n.1167A>G
ENST00000590050.5:n.857A>G
NM_170607.2:c.853A>G	NP_733752.1:p.Ile285Val
NM_198204.1:c.691A>G	NP_937847.1:p.Ile231Val
NM_198205.1:c.601A>G	NP_937848.1:p.Ile201Val
NM_198204.2:c.691A>G MANE Select	NP_937847.1:p.Ile231Val
NM_170607.3:c.853A>G	NP_733752.1:p.Ile285Val
NM_198205.2:c.601A>G	NP_937848.1:p.Ile201Val