Canonical Allele Identifier: CA390031333
Gene: MAX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076522G>T , CM000676.2:g.65076522G>T GRCh38
NC_000014.8:g.65543240G>T , CM000676.1:g.65543240G>T GRCh37
NC_000014.7:g.64612993G>T NCBI36
NG_029830.1:g.30988C>A , LRG_530:g.30988C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.218C>A ENSP00000452206.2:p.Pro73His
ENST00000556979.6:c.*890C>A ENSP00000452378.1:n.*890C>A
ENST00000358664.9:c.437C>A MANE Select ENSP00000351490.4:p.Pro146His
ENST00000651648.1:c.145-6153C>A ENSP00000498863.1:n.145-6153C>A
ENST00000284165.10:c.*1281C>A ENSP00000284165.6:n.*1281C>A
ENST00000341653.6:c.171+17186C>A ENSP00000342482.2:n.171+17186C>A
ENST00000358402.8:c.410C>A ENSP00000351175.4:p.Pro137His
ENST00000358664.8:c.437C>A ENSP00000351490.4:p.Pro146His
ENST00000394606.6:c.*210C>A ENSP00000378104.2:n.*210C>A
ENST00000553928.5:c.*226C>A ENSP00000451907.1:n.*226C>A
ENST00000555419.5:c.329C>A ENSP00000452405.1:p.Pro110His
ENST00000555932.5:c.178C>A ENSP00000450763.1:p.Leu60Met
ENST00000557277.5:c.248C>A ENSP00000450955.1:p.Pro83His
ENST00000618858.4:c.*226C>A ENSP00000480127.1:n.*226C>A
NM_001271069.1:c.144+17186C>A NP_001257998.1:n.144+17186C>A
NM_002382.4:c.437C>A NP_002373.3:p.Pro146His
NM_145112.2:c.410C>A NP_660087.1:p.Pro137His
NM_145113.2:c.*226C>A NP_660088.1:n.*226C>A
NM_197957.3:c.171+17186C>A NP_932061.1:n.171+17186C>A
NR_073137.1:n.561C>A
XR_429315.2:n.724C>A
NM_001320415.1:c.248C>A NP_001307344.1:p.Pro83His
XM_017021312.2:c.248C>A XP_016876801.1:p.Pro83His
XM_017021313.1:c.248C>A XP_016876802.1:p.Pro83His
XR_001750326.2:n.782C>A
XR_001750327.2:n.701C>A
XR_002957553.1:n.1215C>A
XR_943450.3:n.805C>A
XR_943451.3:n.821C>A
XR_943452.3:n.766C>A
NM_001320415.2:c.248C>A NP_001307344.1:p.Pro83His
NM_002382.5:c.437C>A MANE Select NP_002373.3:p.Pro146His
NM_145112.3:c.410C>A NP_660087.1:p.Pro137His
NM_145113.3:c.*226C>A NP_660088.1:n.*226C>A
NM_001271069.2:c.144+17186C>A NP_001257998.1:n.144+17186C>A
NM_197957.4:c.171+17186C>A NP_932061.1:n.171+17186C>A