Canonical Allele Identifier: CA8578769

Gene: MLX

Linked Data

• dbSNP Id: rs780167658
• ExAC: 17:40723595 C / T
• gnomAD v2: 17-40723595-C-T
• MyVariant Identifiers: chr17:g.40723595C>T (hg19) ; chr17:g.42571577C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571577C>T , CM000679.2:g.42571577C>T	GRCh38
NC_000017.10:g.40723595C>T , CM000679.1:g.40723595C>T	GRCh37
NC_000017.9:g.37977121C>T	NCBI36
NG_029442.1:g.9518C>T
NG_031960.1:g.11255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.709C>T MANE Select	ENSP00000416627.1:p.His237Tyr
ENST00000246912.8:c.871C>T	ENSP00000246912.3:p.His291Tyr
ENST00000346833.8:c.619C>T	ENSP00000320913.3:p.His207Tyr
ENST00000435881.6:c.709C>T	ENSP00000416627.1:p.His237Tyr
ENST00000585403.5:n.916C>T
ENST00000588320.1:n.1185C>T
ENST00000590050.5:n.875C>T
NM_170607.2:c.871C>T	NP_733752.1:p.His291Tyr
NM_198204.1:c.709C>T	NP_937847.1:p.His237Tyr
NM_198205.1:c.619C>T	NP_937848.1:p.His207Tyr
NM_198204.2:c.709C>T MANE Select	NP_937847.1:p.His237Tyr
NM_170607.3:c.871C>T	NP_733752.1:p.His291Tyr
NM_198205.2:c.619C>T	NP_937848.1:p.His207Tyr