Canonical Allele Identifier: CA772121434

Gene: MLX

Linked Data

• dbSNP Id: rs1222084777
• gnomAD v4: 17-42571668-C-T
• MyVariant Identifiers: chr17:g.40723686C>T (hg19) ; chr17:g.42571668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571668C>T , CM000679.2:g.42571668C>T	GRCh38
NC_000017.10:g.40723686C>T , CM000679.1:g.40723686C>T	GRCh37
NC_000017.9:g.37977212C>T	NCBI36
NG_029442.1:g.9609C>T
NG_031960.1:g.11164G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.*65C>T MANE Select	ENSP00000416627.1:n.*65C>T
ENST00000246912.8:c.*65C>T	ENSP00000246912.3:n.*65C>T
ENST00000346833.8:c.*65C>T	ENSP00000320913.3:n.*65C>T
ENST00000435881.6:c.*65C>T	ENSP00000416627.1:n.*65C>T
ENST00000585403.5:n.1007C>T
ENST00000588320.1:n.1276C>T
ENST00000590050.5:n.966C>T
NM_170607.2:c.*65C>T	NP_733752.1:n.*65C>T
NM_198204.1:c.*65C>T	NP_937847.1:n.*65C>T
NM_198205.1:c.*65C>T	NP_937848.1:n.*65C>T
NM_198204.2:c.*65C>T MANE Select	NP_937847.1:n.*65C>T
NM_170607.3:c.*65C>T	NP_733752.1:n.*65C>T
NM_198205.2:c.*65C>T	NP_937848.1:n.*65C>T