Canonical Allele Identifier: CA390031313
Gene: MAX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076518T>G , CM000676.2:g.65076518T>G GRCh38
NC_000014.8:g.65543236T>G , CM000676.1:g.65543236T>G GRCh37
NC_000014.7:g.64612989T>G NCBI36
NG_029830.1:g.30992A>C , LRG_530:g.30992A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.222A>C ENSP00000452206.2:p.Glu74Asp
ENST00000556979.6:c.*894A>C ENSP00000452378.1:n.*894A>C
ENST00000358664.9:c.441A>C MANE Select ENSP00000351490.4:p.Glu147Asp
ENST00000651648.1:c.145-6149A>C ENSP00000498863.1:n.145-6149A>C
ENST00000284165.10:c.*1285A>C ENSP00000284165.6:n.*1285A>C
ENST00000341653.6:c.171+17190A>C ENSP00000342482.2:n.171+17190A>C
ENST00000358402.8:c.414A>C ENSP00000351175.4:p.Glu138Asp
ENST00000358664.8:c.441A>C ENSP00000351490.4:p.Glu147Asp
ENST00000394606.6:c.*214A>C ENSP00000378104.2:n.*214A>C
ENST00000553928.5:c.*230A>C ENSP00000451907.1:n.*230A>C
ENST00000555419.5:c.333A>C ENSP00000452405.1:p.Glu111Asp
ENST00000555932.5:c.182A>C ENSP00000450763.1:p.Lys61Thr
ENST00000557277.5:c.252A>C ENSP00000450955.1:p.Glu84Asp
ENST00000618858.4:c.*230A>C ENSP00000480127.1:n.*230A>C
NM_001271069.1:c.144+17190A>C NP_001257998.1:n.144+17190A>C
NM_002382.4:c.441A>C NP_002373.3:p.Glu147Asp
NM_145112.2:c.414A>C NP_660087.1:p.Glu138Asp
NM_145113.2:c.*230A>C NP_660088.1:n.*230A>C
NM_197957.3:c.171+17190A>C NP_932061.1:n.171+17190A>C
NR_073137.1:n.565A>C
XR_429315.2:n.728A>C
NM_001320415.1:c.252A>C NP_001307344.1:p.Glu84Asp
XM_017021312.2:c.252A>C XP_016876801.1:p.Glu84Asp
XM_017021313.1:c.252A>C XP_016876802.1:p.Glu84Asp
XR_001750326.2:n.786A>C
XR_001750327.2:n.705A>C
XR_002957553.1:n.1219A>C
XR_943450.3:n.809A>C
XR_943451.3:n.825A>C
XR_943452.3:n.770A>C
NM_001320415.2:c.252A>C NP_001307344.1:p.Glu84Asp
NM_002382.5:c.441A>C MANE Select NP_002373.3:p.Glu147Asp
NM_145112.3:c.414A>C NP_660087.1:p.Glu138Asp
NM_145113.3:c.*230A>C NP_660088.1:n.*230A>C
NM_001271069.2:c.144+17190A>C NP_001257998.1:n.144+17190A>C
NM_197957.4:c.171+17190A>C NP_932061.1:n.171+17190A>C