Canonical Allele Identifier: CA399605346

Gene: MLX

Linked Data

• MyVariant Identifiers: chr17:g.40723616T>C (hg19) ; chr17:g.42571598T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571598T>C , CM000679.2:g.42571598T>C	GRCh38
NC_000017.10:g.40723616T>C , CM000679.1:g.40723616T>C	GRCh37
NC_000017.9:g.37977142T>C	NCBI36
NG_029442.1:g.9539T>C
NG_031960.1:g.11234A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.730T>C MANE Select	ENSP00000416627.1:p.Tyr244His
ENST00000246912.8:c.892T>C	ENSP00000246912.3:p.Tyr298His
ENST00000346833.8:c.640T>C	ENSP00000320913.3:p.Tyr214His
ENST00000435881.6:c.730T>C	ENSP00000416627.1:p.Tyr244His
ENST00000585403.5:n.937T>C
ENST00000588320.1:n.1206T>C
ENST00000590050.5:n.896T>C
NM_170607.2:c.892T>C	NP_733752.1:p.Tyr298His
NM_198204.1:c.730T>C	NP_937847.1:p.Tyr244His
NM_198205.1:c.640T>C	NP_937848.1:p.Tyr214His
NM_198204.2:c.730T>C MANE Select	NP_937847.1:p.Tyr244His
NM_170607.3:c.892T>C	NP_733752.1:p.Tyr298His
NM_198205.2:c.640T>C	NP_937848.1:p.Tyr214His