Canonical Allele Identifier: CA290776642

Gene: MLX

Linked Data

• dbSNP Id: rs554216330
• gnomAD v2: 17-40723494-G-C
• gnomAD v3: 17-42571476-G-C
• gnomAD v4: 17-42571476-G-C
• MyVariant Identifiers: chr17:g.40723494G>C (hg19) ; chr17:g.42571476G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571476G>C , CM000679.2:g.42571476G>C	GRCh38
NC_000017.10:g.40723494G>C , CM000679.1:g.40723494G>C	GRCh37
NC_000017.9:g.37977020G>C	NCBI36
NG_029442.1:g.9417G>C
NG_031960.1:g.11356C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.679-71G>C MANE Select	ENSP00000416627.1:n.679-71G>C
ENST00000246912.8:c.841-71G>C	ENSP00000246912.3:n.841-71G>C
ENST00000346833.8:c.589-71G>C	ENSP00000320913.3:n.589-71G>C
ENST00000435881.6:c.679-71G>C	ENSP00000416627.1:n.679-71G>C
ENST00000585403.5:n.886-71G>C
ENST00000588320.1:n.1155-71G>C
ENST00000590050.5:n.845-71G>C
NM_170607.2:c.841-71G>C	NP_733752.1:n.841-71G>C
NM_198204.1:c.679-71G>C	NP_937847.1:n.679-71G>C
NM_198205.1:c.589-71G>C	NP_937848.1:n.589-71G>C
NM_198204.2:c.679-71G>C MANE Select	NP_937847.1:n.679-71G>C
NM_170607.3:c.841-71G>C	NP_733752.1:n.841-71G>C
NM_198205.2:c.589-71G>C	NP_937848.1:n.589-71G>C