Canonical Allele Identifier: CA500068522

Gene: MLX

Linked Data

• gnomAD v4: 17-42571597-T-A
• MyVariant Identifiers: chr17:g.40723615T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571597T>A , CM000679.2:g.42571597T>A	GRCh38
NC_000017.10:g.40723615T>A , CM000679.1:g.40723615T>A	GRCh37
NC_000017.9:g.37977141T>A	NCBI36
NG_029442.1:g.9538T>A
NG_031960.1:g.11235A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.729T>A MANE Select	ENSP00000416627.1:p.Leu243=
ENST00000246912.8:c.891T>A	ENSP00000246912.3:p.Leu297=
ENST00000346833.8:c.639T>A	ENSP00000320913.3:p.Leu213=
ENST00000435881.6:c.729T>A	ENSP00000416627.1:p.Leu243=
ENST00000585403.5:n.936T>A
ENST00000588320.1:n.1205T>A
ENST00000590050.5:n.895T>A
NM_170607.2:c.891T>A	NP_733752.1:p.Leu297=
NM_198204.1:c.729T>A	NP_937847.1:p.Leu243=
NM_198205.1:c.639T>A	NP_937848.1:p.Leu213=
NM_198204.2:c.729T>A MANE Select	NP_937847.1:p.Leu243=
NM_170607.3:c.891T>A	NP_733752.1:p.Leu297=
NM_198205.2:c.639T>A	NP_937848.1:p.Leu213=