Canonical Allele Identifier: CA290776877

Gene: MLX

Linked Data

• dbSNP Id: rs953115845
• gnomAD v4: 17-42571695-A-G
• MyVariant Identifiers: chr17:g.40723713A>G (hg19) ; chr17:g.42571695A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571695A>G , CM000679.2:g.42571695A>G	GRCh38
NC_000017.10:g.40723713A>G , CM000679.1:g.40723713A>G	GRCh37
NC_000017.9:g.37977239A>G	NCBI36
NG_029442.1:g.9636A>G
NG_031960.1:g.11137T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.*92A>G MANE Select	ENSP00000416627.1:n.*92A>G
ENST00000246912.8:c.*92A>G	ENSP00000246912.3:n.*92A>G
ENST00000346833.8:c.*92A>G	ENSP00000320913.3:n.*92A>G
ENST00000435881.6:c.*92A>G	ENSP00000416627.1:n.*92A>G
ENST00000585403.5:n.1034A>G
ENST00000588320.1:n.1303A>G
ENST00000590050.5:n.993A>G
NM_170607.2:c.*92A>G	NP_733752.1:n.*92A>G
NM_198204.1:c.*92A>G	NP_937847.1:n.*92A>G
NM_198205.1:c.*92A>G	NP_937848.1:n.*92A>G
NM_198204.2:c.*92A>G MANE Select	NP_937847.1:n.*92A>G
NM_170607.3:c.*92A>G	NP_733752.1:n.*92A>G
NM_198205.2:c.*92A>G	NP_937848.1:n.*92A>G