Canonical Allele Identifier: CA2575554349
Gene: MAX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65075445C>T , CM000676.2:g.65075445C>T GRCh38
NC_000014.8:g.65542163C>T , CM000676.1:g.65542163C>T GRCh37
NC_000014.7:g.64611916C>T NCBI36
NG_029830.1:g.32065G>A , LRG_530:g.32065G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000556979.6:c.*1967G>A ENSP00000452378.1:n.*1967G>A
ENST00000358664.9:c.*1031G>A MANE Select ENSP00000351490.4:n.*1031G>A
ENST00000651648.1:c.145-5076G>A ENSP00000498863.1:n.145-5076G>A
ENST00000284165.10:c.*2358G>A ENSP00000284165.6:n.*2358G>A
ENST00000341653.6:c.171+18263G>A ENSP00000342482.2:n.171+18263G>A
ENST00000358402.8:c.*1031G>A ENSP00000351175.4:n.*1031G>A
ENST00000394606.6:c.*1287G>A ENSP00000378104.2:n.*1287G>A
ENST00000555932.5:c.*1006G>A ENSP00000450763.1:n.*1006G>A
ENST00000618858.4:c.*1303G>A ENSP00000480127.1:n.*1303G>A
NM_001271069.1:c.144+18263G>A NP_001257998.1:n.144+18263G>A
NM_002382.4:c.*1031G>A NP_002373.3:n.*1031G>A
NM_145112.2:c.*1031G>A NP_660087.1:n.*1031G>A
NM_145113.2:c.*1303G>A NP_660088.1:n.*1303G>A
NM_197957.3:c.171+18263G>A NP_932061.1:n.171+18263G>A
NR_073137.1:n.1638G>A
XR_429315.2:n.1801G>A
NM_001320415.1:c.*1031G>A NP_001307344.1:n.*1031G>A
XM_017021312.2:c.*1031G>A XP_016876801.1:n.*1031G>A
XM_017021313.1:c.*1031G>A XP_016876802.1:n.*1031G>A
XR_001750326.2:n.1859G>A
XR_001750327.2:n.1778G>A
XR_002957553.1:n.2292G>A
XR_943450.3:n.1882G>A
XR_943451.3:n.1898G>A
XR_943452.3:n.1843G>A
NM_001320415.2:c.*1031G>A NP_001307344.1:n.*1031G>A
NM_002382.5:c.*1031G>A MANE Select NP_002373.3:n.*1031G>A
NM_145112.3:c.*1031G>A NP_660087.1:n.*1031G>A
NM_145113.3:c.*1303G>A NP_660088.1:n.*1303G>A
NM_001271069.2:c.144+18263G>A NP_001257998.1:n.144+18263G>A
NM_197957.4:c.171+18263G>A NP_932061.1:n.171+18263G>A