Canonical Allele Identifier: CA399605363

Gene: MLX

Linked Data

• MyVariant Identifiers: chr17:g.40723619T>C (hg19) ; chr17:g.42571601T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571601T>C , CM000679.2:g.42571601T>C	GRCh38
NC_000017.10:g.40723619T>C , CM000679.1:g.40723619T>C	GRCh37
NC_000017.9:g.37977145T>C	NCBI36
NG_029442.1:g.9542T>C
NG_031960.1:g.11231A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.733T>C MANE Select	ENSP00000416627.1:p.Ter245Arg
ENST00000246912.8:c.895T>C	ENSP00000246912.3:p.Ter299Arg
ENST00000346833.8:c.643T>C	ENSP00000320913.3:p.Ter215Arg
ENST00000435881.6:c.733T>C	ENSP00000416627.1:p.Ter245Arg
ENST00000585403.5:n.940T>C
ENST00000588320.1:n.1209T>C
ENST00000590050.5:n.899T>C
NM_170607.2:c.895T>C	NP_733752.1:p.Ter299Arg
NM_198204.1:c.733T>C	NP_937847.1:p.Ter245Arg
NM_198205.1:c.643T>C	NP_937848.1:p.Ter215Arg
NM_198204.2:c.733T>C MANE Select	NP_937847.1:p.Ter245Arg
NM_170607.3:c.895T>C	NP_733752.1:p.Ter299Arg
NM_198205.2:c.643T>C	NP_937848.1:p.Ter215Arg