Canonical Allele Identifier: CA399605187

Gene: MLX

Linked Data

• gnomAD v4: 17-42571566-T-C
• MyVariant Identifiers: chr17:g.40723584T>C (hg19) ; chr17:g.42571566T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571566T>C , CM000679.2:g.42571566T>C	GRCh38
NC_000017.10:g.40723584T>C , CM000679.1:g.40723584T>C	GRCh37
NC_000017.9:g.37977110T>C	NCBI36
NG_029442.1:g.9507T>C
NG_031960.1:g.11266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.698T>C MANE Select	ENSP00000416627.1:p.Ile233Thr
ENST00000246912.8:c.860T>C	ENSP00000246912.3:p.Ile287Thr
ENST00000346833.8:c.608T>C	ENSP00000320913.3:p.Ile203Thr
ENST00000435881.6:c.698T>C	ENSP00000416627.1:p.Ile233Thr
ENST00000585403.5:n.905T>C
ENST00000588320.1:n.1174T>C
ENST00000590050.5:n.864T>C
NM_170607.2:c.860T>C	NP_733752.1:p.Ile287Thr
NM_198204.1:c.698T>C	NP_937847.1:p.Ile233Thr
NM_198205.1:c.608T>C	NP_937848.1:p.Ile203Thr
NM_198204.2:c.698T>C MANE Select	NP_937847.1:p.Ile233Thr
NM_170607.3:c.860T>C	NP_733752.1:p.Ile287Thr
NM_198205.2:c.608T>C	NP_937848.1:p.Ile203Thr