Canonical Allele Identifier: CA8578761

Gene: MLX

Linked Data

• dbSNP Id: rs776778425
• ExAC: 17:40723567 C / A
• gnomAD v2: 17-40723567-C-A
• gnomAD v3: 17-42571549-C-A
• gnomAD v4: 17-42571549-C-A
• MyVariant Identifiers: chr17:g.40723567C>A (hg19) ; chr17:g.42571549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571549C>A , CM000679.2:g.42571549C>A	GRCh38
NC_000017.10:g.40723567C>A , CM000679.1:g.40723567C>A	GRCh37
NC_000017.9:g.37977093C>A	NCBI36
NG_029442.1:g.9490C>A
NG_031960.1:g.11283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.681C>A MANE Select	ENSP00000416627.1:p.Thr227=
ENST00000246912.8:c.843C>A	ENSP00000246912.3:p.Thr281=
ENST00000346833.8:c.591C>A	ENSP00000320913.3:p.Thr197=
ENST00000435881.6:c.681C>A	ENSP00000416627.1:p.Thr227=
ENST00000585403.5:n.888C>A
ENST00000588320.1:n.1157C>A
ENST00000590050.5:n.847C>A
NM_170607.2:c.843C>A	NP_733752.1:p.Thr281=
NM_198204.1:c.681C>A	NP_937847.1:p.Thr227=
NM_198205.1:c.591C>A	NP_937848.1:p.Thr197=
NM_198204.2:c.681C>A MANE Select	NP_937847.1:p.Thr227=
NM_170607.3:c.843C>A	NP_733752.1:p.Thr281=
NM_198205.2:c.591C>A	NP_937848.1:p.Thr197=