Canonical Allele Identifier: CA399605205

Gene: MLX

Linked Data

• dbSNP Id: rs756214487
• gnomAD v2: 17-40723589-G-C
• gnomAD v4: 17-42571571-G-C
• MyVariant Identifiers: chr17:g.40723589G>C (hg19) ; chr17:g.42571571G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571571G>C , CM000679.2:g.42571571G>C	GRCh38
NC_000017.10:g.40723589G>C , CM000679.1:g.40723589G>C	GRCh37
NC_000017.9:g.37977115G>C	NCBI36
NG_029442.1:g.9512G>C
NG_031960.1:g.11261C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.703G>C MANE Select	ENSP00000416627.1:p.Val235Leu
ENST00000246912.8:c.865G>C	ENSP00000246912.3:p.Val289Leu
ENST00000346833.8:c.613G>C	ENSP00000320913.3:p.Val205Leu
ENST00000435881.6:c.703G>C	ENSP00000416627.1:p.Val235Leu
ENST00000585403.5:n.910G>C
ENST00000588320.1:n.1179G>C
ENST00000590050.5:n.869G>C
NM_170607.2:c.865G>C	NP_733752.1:p.Val289Leu
NM_198204.1:c.703G>C	NP_937847.1:p.Val235Leu
NM_198205.1:c.613G>C	NP_937848.1:p.Val205Leu
NM_198204.2:c.703G>C MANE Select	NP_937847.1:p.Val235Leu
NM_170607.3:c.865G>C	NP_733752.1:p.Val289Leu
NM_198205.2:c.613G>C	NP_937848.1:p.Val205Leu