Canonical Allele Identifier: CA290776866

Gene: MLX

Linked Data

• dbSNP Id: rs547564696
• gnomAD v3: 17-42571679-G-A
• gnomAD v4: 17-42571679-G-A
• MyVariant Identifiers: chr17:g.40723697G>A (hg19) ; chr17:g.42571679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571679G>A , CM000679.2:g.42571679G>A	GRCh38
NC_000017.10:g.40723697G>A , CM000679.1:g.40723697G>A	GRCh37
NC_000017.9:g.37977223G>A	NCBI36
NG_029442.1:g.9620G>A
NG_031960.1:g.11153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.*76G>A MANE Select	ENSP00000416627.1:n.*76G>A
ENST00000246912.8:c.*76G>A	ENSP00000246912.3:n.*76G>A
ENST00000346833.8:c.*76G>A	ENSP00000320913.3:n.*76G>A
ENST00000435881.6:c.*76G>A	ENSP00000416627.1:n.*76G>A
ENST00000585403.5:n.1018G>A
ENST00000588320.1:n.1287G>A
ENST00000590050.5:n.977G>A
NM_170607.2:c.*76G>A	NP_733752.1:n.*76G>A
NM_198204.1:c.*76G>A	NP_937847.1:n.*76G>A
NM_198205.1:c.*76G>A	NP_937848.1:n.*76G>A
NM_198204.2:c.*76G>A MANE Select	NP_937847.1:n.*76G>A
NM_170607.3:c.*76G>A	NP_733752.1:n.*76G>A
NM_198205.2:c.*76G>A	NP_937848.1:n.*76G>A