Canonical Allele Identifier: CA290776786

Gene: MLX

Linked Data

• dbSNP Id: rs200600765
• gnomAD v4: 17-42571596-T-C
• MyVariant Identifiers: chr17:g.40723614T>C (hg19) ; chr17:g.42571596T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571596T>C , CM000679.2:g.42571596T>C	GRCh38
NC_000017.10:g.40723614T>C , CM000679.1:g.40723614T>C	GRCh37
NC_000017.9:g.37977140T>C	NCBI36
NG_029442.1:g.9537T>C
NG_031960.1:g.11236A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.728T>C MANE Select	ENSP00000416627.1:p.Leu243Pro
ENST00000246912.8:c.890T>C	ENSP00000246912.3:p.Leu297Pro
ENST00000346833.8:c.638T>C	ENSP00000320913.3:p.Leu213Pro
ENST00000435881.6:c.728T>C	ENSP00000416627.1:p.Leu243Pro
ENST00000585403.5:n.935T>C
ENST00000588320.1:n.1204T>C
ENST00000590050.5:n.894T>C
NM_170607.2:c.890T>C	NP_733752.1:p.Leu297Pro
NM_198204.1:c.728T>C	NP_937847.1:p.Leu243Pro
NM_198205.1:c.638T>C	NP_937848.1:p.Leu213Pro
NM_198204.2:c.728T>C MANE Select	NP_937847.1:p.Leu243Pro
NM_170607.3:c.890T>C	NP_733752.1:p.Leu297Pro
NM_198205.2:c.638T>C	NP_937848.1:p.Leu213Pro