Canonical Allele Identifier: CA8578771

Gene: MLX

Linked Data

• dbSNP Id: rs145413116
• ExAC: 17:40723612 G / A
• gnomAD v2: 17-40723612-G-A
• gnomAD v3: 17-42571594-G-A
• gnomAD v4: 17-42571594-G-A
• MyVariant Identifiers: chr17:g.40723612G>A (hg19) ; chr17:g.42571594G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571594G>A , CM000679.2:g.42571594G>A	GRCh38
NC_000017.10:g.40723612G>A , CM000679.1:g.40723612G>A	GRCh37
NC_000017.9:g.37977138G>A	NCBI36
NG_029442.1:g.9535G>A
NG_031960.1:g.11238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.726G>A MANE Select	ENSP00000416627.1:p.Gln242=
ENST00000246912.8:c.888G>A	ENSP00000246912.3:p.Gln296=
ENST00000346833.8:c.636G>A	ENSP00000320913.3:p.Gln212=
ENST00000435881.6:c.726G>A	ENSP00000416627.1:p.Gln242=
ENST00000585403.5:n.933G>A
ENST00000588320.1:n.1202G>A
ENST00000590050.5:n.892G>A
NM_170607.2:c.888G>A	NP_733752.1:p.Gln296=
NM_198204.1:c.726G>A	NP_937847.1:p.Gln242=
NM_198205.1:c.636G>A	NP_937848.1:p.Gln212=
NM_198204.2:c.726G>A MANE Select	NP_937847.1:p.Gln242=
NM_170607.3:c.888G>A	NP_733752.1:p.Gln296=
NM_198205.2:c.636G>A	NP_937848.1:p.Gln212=