Canonical Allele Identifier: CA399605102

Gene: MLX

Linked Data

• gnomAD v4: 17-42571548-C-T
• MyVariant Identifiers: chr17:g.40723566C>T (hg19) ; chr17:g.42571548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571548C>T , CM000679.2:g.42571548C>T	GRCh38
NC_000017.10:g.40723566C>T , CM000679.1:g.40723566C>T	GRCh37
NC_000017.9:g.37977092C>T	NCBI36
NG_029442.1:g.9489C>T
NG_031960.1:g.11284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.680C>T MANE Select	ENSP00000416627.1:p.Thr227Ile
ENST00000246912.8:c.842C>T	ENSP00000246912.3:p.Thr281Ile
ENST00000346833.8:c.590C>T	ENSP00000320913.3:p.Thr197Ile
ENST00000435881.6:c.680C>T	ENSP00000416627.1:p.Thr227Ile
ENST00000585403.5:n.887C>T
ENST00000588320.1:n.1156C>T
ENST00000590050.5:n.846C>T
NM_170607.2:c.842C>T	NP_733752.1:p.Thr281Ile
NM_198204.1:c.680C>T	NP_937847.1:p.Thr227Ile
NM_198205.1:c.590C>T	NP_937848.1:p.Thr197Ile
NM_198204.2:c.680C>T MANE Select	NP_937847.1:p.Thr227Ile
NM_170607.3:c.842C>T	NP_733752.1:p.Thr281Ile
NM_198205.2:c.590C>T	NP_937848.1:p.Thr197Ile