Canonical Allele Identifier: CA390031020
Gene: MAX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076478A>G , CM000676.2:g.65076478A>G GRCh38
NC_000014.8:g.65543196A>G , CM000676.1:g.65543196A>G GRCh37
NC_000014.7:g.64612949A>G NCBI36
NG_029830.1:g.31032T>C , LRG_530:g.31032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.262T>C ENSP00000452206.2:p.Ter88Gln
ENST00000556979.6:c.*934T>C ENSP00000452378.1:n.*934T>C
ENST00000358664.9:c.481T>C MANE Select ENSP00000351490.4:p.Ter161Gln
ENST00000651648.1:c.145-6109T>C ENSP00000498863.1:n.145-6109T>C
ENST00000284165.10:c.*1325T>C ENSP00000284165.6:n.*1325T>C
ENST00000341653.6:c.171+17230T>C ENSP00000342482.2:n.171+17230T>C
ENST00000358402.8:c.454T>C ENSP00000351175.4:p.Ter152Gln
ENST00000358664.8:c.481T>C ENSP00000351490.4:p.Ter161Gln
ENST00000394606.6:c.*254T>C ENSP00000378104.2:n.*254T>C
ENST00000553928.5:c.*270T>C ENSP00000451907.1:n.*270T>C
ENST00000555419.5:c.373T>C ENSP00000452405.1:p.Ter125Gln
ENST00000555932.5:c.222T>C ENSP00000450763.1:p.Ala74=
ENST00000557277.5:c.292T>C ENSP00000450955.1:p.Ter98Gln
ENST00000618858.4:c.*270T>C ENSP00000480127.1:n.*270T>C
NM_001271069.1:c.144+17230T>C NP_001257998.1:n.144+17230T>C
NM_002382.4:c.481T>C NP_002373.3:p.Ter161Gln
NM_145112.2:c.454T>C NP_660087.1:p.Ter152Gln
NM_145113.2:c.*270T>C NP_660088.1:n.*270T>C
NM_197957.3:c.171+17230T>C NP_932061.1:n.171+17230T>C
NR_073137.1:n.605T>C
XR_429315.2:n.768T>C
NM_001320415.1:c.292T>C NP_001307344.1:p.Ter98Gln
XM_017021312.2:c.292T>C XP_016876801.1:p.Ter98Gln
XM_017021313.1:c.292T>C XP_016876802.1:p.Ter98Gln
XR_001750326.2:n.826T>C
XR_001750327.2:n.745T>C
XR_002957553.1:n.1259T>C
XR_943450.3:n.849T>C
XR_943451.3:n.865T>C
XR_943452.3:n.810T>C
NM_001320415.2:c.292T>C NP_001307344.1:p.Ter98Gln
NM_002382.5:c.481T>C MANE Select NP_002373.3:p.Ter161Gln
NM_145112.3:c.454T>C NP_660087.1:p.Ter152Gln
NM_145113.3:c.*270T>C NP_660088.1:n.*270T>C
NM_001271069.2:c.144+17230T>C NP_001257998.1:n.144+17230T>C
NM_197957.4:c.171+17230T>C NP_932061.1:n.171+17230T>C