Canonical Allele Identifier: CA390031643
Gene: MAX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076571T>G , CM000676.2:g.65076571T>G GRCh38
NC_000014.8:g.65543289T>G , CM000676.1:g.65543289T>G GRCh37
NC_000014.7:g.64613042T>G NCBI36
NG_029830.1:g.30939A>C , LRG_530:g.30939A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.169A>C ENSP00000452206.2:p.Thr57Pro
ENST00000556979.6:c.*841A>C ENSP00000452378.1:n.*841A>C
ENST00000358664.9:c.388A>C MANE Select ENSP00000351490.4:p.Thr130Pro
ENST00000651648.1:c.145-6202A>C ENSP00000498863.1:n.145-6202A>C
ENST00000284165.10:c.*1232A>C ENSP00000284165.6:n.*1232A>C
ENST00000341653.6:c.171+17137A>C ENSP00000342482.2:n.171+17137A>C
ENST00000358402.8:c.361A>C ENSP00000351175.4:p.Thr121Pro
ENST00000358664.8:c.388A>C ENSP00000351490.4:p.Thr130Pro
ENST00000394606.6:c.*161A>C ENSP00000378104.2:n.*161A>C
ENST00000553928.5:c.*177A>C ENSP00000451907.1:n.*177A>C
ENST00000555419.5:c.280A>C ENSP00000452405.1:p.Thr94Pro
ENST00000555932.5:c.129A>C ENSP00000450763.1:p.Ala43=
ENST00000557277.5:c.199A>C ENSP00000450955.1:p.Thr67Pro
ENST00000618858.4:c.*177A>C ENSP00000480127.1:n.*177A>C
NM_001271069.1:c.144+17137A>C NP_001257998.1:n.144+17137A>C
NM_002382.4:c.388A>C NP_002373.3:p.Thr130Pro
NM_145112.2:c.361A>C NP_660087.1:p.Thr121Pro
NM_145113.2:c.*177A>C NP_660088.1:n.*177A>C
NM_197957.3:c.171+17137A>C NP_932061.1:n.171+17137A>C
NR_073137.1:n.512A>C
XR_429315.2:n.675A>C
NM_001320415.1:c.199A>C NP_001307344.1:p.Thr67Pro
XM_017021312.2:c.199A>C XP_016876801.1:p.Thr67Pro
XM_017021313.1:c.199A>C XP_016876802.1:p.Thr67Pro
XR_001750326.2:n.733A>C
XR_001750327.2:n.652A>C
XR_002957553.1:n.1166A>C
XR_943450.3:n.756A>C
XR_943451.3:n.772A>C
XR_943452.3:n.717A>C
NM_001320415.2:c.199A>C NP_001307344.1:p.Thr67Pro
NM_002382.5:c.388A>C MANE Select NP_002373.3:p.Thr130Pro
NM_145112.3:c.361A>C NP_660087.1:p.Thr121Pro
NM_145113.3:c.*177A>C NP_660088.1:n.*177A>C
NM_001271069.2:c.144+17137A>C NP_001257998.1:n.144+17137A>C
NM_197957.4:c.171+17137A>C NP_932061.1:n.171+17137A>C