Canonical Allele Identifier: CA399605174
Gene: MLX HGNC NCBI

Linked Data

ClinVar Variation Id: 3211029
ClinVar RCV Id: RCV004505417
dbSNP Id: rs2093032811

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42571563T>C , CM000679.2:g.42571563T>C GRCh38
NC_000017.10:g.40723581T>C , CM000679.1:g.40723581T>C GRCh37
NC_000017.9:g.37977107T>C NCBI36
NG_029442.1:g.9504T>C
NG_031960.1:g.11269A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435881.7:c.695T>C MANE Select ENSP00000416627.1:p.Val232Ala
ENST00000246912.8:c.857T>C ENSP00000246912.3:p.Val286Ala
ENST00000346833.8:c.605T>C ENSP00000320913.3:p.Val202Ala
ENST00000435881.6:c.695T>C ENSP00000416627.1:p.Val232Ala
ENST00000585403.5:n.902T>C
ENST00000588320.1:n.1171T>C
ENST00000590050.5:n.861T>C
NM_170607.2:c.857T>C NP_733752.1:p.Val286Ala
NM_198204.1:c.695T>C NP_937847.1:p.Val232Ala
NM_198205.1:c.605T>C NP_937848.1:p.Val202Ala
NM_198204.2:c.695T>C MANE Select NP_937847.1:p.Val232Ala
NM_170607.3:c.857T>C NP_733752.1:p.Val286Ala
NM_198205.2:c.605T>C NP_937848.1:p.Val202Ala