Canonical Allele Identifier: CA399605292

Gene: MLX

Linked Data

• MyVariant Identifiers: chr17:g.40723606A>C (hg19) ; chr17:g.42571588A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571588A>C , CM000679.2:g.42571588A>C	GRCh38
NC_000017.10:g.40723606A>C , CM000679.1:g.40723606A>C	GRCh37
NC_000017.9:g.37977132A>C	NCBI36
NG_029442.1:g.9529A>C
NG_031960.1:g.11244T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.720A>C MANE Select	ENSP00000416627.1:p.Lys240Asn
ENST00000246912.8:c.882A>C	ENSP00000246912.3:p.Lys294Asn
ENST00000346833.8:c.630A>C	ENSP00000320913.3:p.Lys210Asn
ENST00000435881.6:c.720A>C	ENSP00000416627.1:p.Lys240Asn
ENST00000585403.5:n.927A>C
ENST00000588320.1:n.1196A>C
ENST00000590050.5:n.886A>C
NM_170607.2:c.882A>C	NP_733752.1:p.Lys294Asn
NM_198204.1:c.720A>C	NP_937847.1:p.Lys240Asn
NM_198205.1:c.630A>C	NP_937848.1:p.Lys210Asn
NM_198204.2:c.720A>C MANE Select	NP_937847.1:p.Lys240Asn
NM_170607.3:c.882A>C	NP_733752.1:p.Lys294Asn
NM_198205.2:c.630A>C	NP_937848.1:p.Lys210Asn