Canonical Allele Identifier: CA290776849

Gene: MLX

Linked Data

• dbSNP Id: rs1030905442
• gnomAD v2: 17-40723671-T-C
• gnomAD v3: 17-42571653-T-C
• gnomAD v4: 17-42571653-T-C
• MyVariant Identifiers: chr17:g.40723671T>C (hg19) ; chr17:g.42571653T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571653T>C , CM000679.2:g.42571653T>C	GRCh38
NC_000017.10:g.40723671T>C , CM000679.1:g.40723671T>C	GRCh37
NC_000017.9:g.37977197T>C	NCBI36
NG_029442.1:g.9594T>C
NG_031960.1:g.11179A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.*50T>C MANE Select	ENSP00000416627.1:n.*50T>C
ENST00000246912.8:c.*50T>C	ENSP00000246912.3:n.*50T>C
ENST00000346833.8:c.*50T>C	ENSP00000320913.3:n.*50T>C
ENST00000435881.6:c.*50T>C	ENSP00000416627.1:n.*50T>C
ENST00000585403.5:n.992T>C
ENST00000588320.1:n.1261T>C
ENST00000590050.5:n.951T>C
NM_170607.2:c.*50T>C	NP_733752.1:n.*50T>C
NM_198204.1:c.*50T>C	NP_937847.1:n.*50T>C
NM_198205.1:c.*50T>C	NP_937848.1:n.*50T>C
NM_198204.2:c.*50T>C MANE Select	NP_937847.1:n.*50T>C
NM_170607.3:c.*50T>C	NP_733752.1:n.*50T>C
NM_198205.2:c.*50T>C	NP_937848.1:n.*50T>C