Canonical Allele Identifier: CA8578784

Gene: MLX

Linked Data

• dbSNP Id: rs775450492
• ExAC: 17:40723673 C / A
• gnomAD v2: 17-40723673-C-A
• gnomAD v3: 17-42571655-C-A
• gnomAD v4: 17-42571655-C-A
• MyVariant Identifiers: chr17:g.40723673C>A (hg19) ; chr17:g.42571655C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571655C>A , CM000679.2:g.42571655C>A	GRCh38
NC_000017.10:g.40723673C>A , CM000679.1:g.40723673C>A	GRCh37
NC_000017.9:g.37977199C>A	NCBI36
NG_029442.1:g.9596C>A
NG_031960.1:g.11177G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.*52C>A MANE Select	ENSP00000416627.1:n.*52C>A
ENST00000246912.8:c.*52C>A	ENSP00000246912.3:n.*52C>A
ENST00000346833.8:c.*52C>A	ENSP00000320913.3:n.*52C>A
ENST00000435881.6:c.*52C>A	ENSP00000416627.1:n.*52C>A
ENST00000585403.5:n.994C>A
ENST00000588320.1:n.1263C>A
ENST00000590050.5:n.953C>A
NM_170607.2:c.*52C>A	NP_733752.1:n.*52C>A
NM_198204.1:c.*52C>A	NP_937847.1:n.*52C>A
NM_198205.1:c.*52C>A	NP_937848.1:n.*52C>A
NM_198204.2:c.*52C>A MANE Select	NP_937847.1:n.*52C>A
NM_170607.3:c.*52C>A	NP_733752.1:n.*52C>A
NM_198205.2:c.*52C>A	NP_937848.1:n.*52C>A