Canonical Allele Identifier: CA390031640
Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 568824
dbSNP Id: rs1566598180

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.169A>G ENSP00000452206.2:p.Thr57Ala
ENST00000556979.6:c.*841A>G ENSP00000452378.1:n.*841A>G
ENST00000358664.9:c.388A>G MANE Select ENSP00000351490.4:p.Thr130Ala
ENST00000651648.1:c.145-6202A>G ENSP00000498863.1:n.145-6202A>G
ENST00000284165.10:c.*1232A>G ENSP00000284165.6:n.*1232A>G
ENST00000341653.6:c.171+17137A>G ENSP00000342482.2:n.171+17137A>G
ENST00000358402.8:c.361A>G ENSP00000351175.4:p.Thr121Ala
ENST00000358664.8:c.388A>G ENSP00000351490.4:p.Thr130Ala
ENST00000394606.6:c.*161A>G ENSP00000378104.2:n.*161A>G
ENST00000553928.5:c.*177A>G ENSP00000451907.1:n.*177A>G
ENST00000555419.5:c.280A>G ENSP00000452405.1:p.Thr94Ala
ENST00000555932.5:c.129A>G ENSP00000450763.1:p.Ala43=
ENST00000557277.5:c.199A>G ENSP00000450955.1:p.Thr67Ala
ENST00000618858.4:c.*177A>G ENSP00000480127.1:n.*177A>G
NM_001271069.1:c.144+17137A>G NP_001257998.1:n.144+17137A>G
NM_002382.4:c.388A>G NP_002373.3:p.Thr130Ala
NM_145112.2:c.361A>G NP_660087.1:p.Thr121Ala
NM_145113.2:c.*177A>G NP_660088.1:n.*177A>G
NM_197957.3:c.171+17137A>G NP_932061.1:n.171+17137A>G
NR_073137.1:n.512A>G
XR_429315.2:n.675A>G
NM_001320415.1:c.199A>G NP_001307344.1:p.Thr67Ala
XM_017021312.2:c.199A>G XP_016876801.1:p.Thr67Ala
XM_017021313.1:c.199A>G XP_016876802.1:p.Thr67Ala
XR_001750326.2:n.733A>G
XR_001750327.2:n.652A>G
XR_002957553.1:n.1166A>G
XR_943450.3:n.756A>G
XR_943451.3:n.772A>G
XR_943452.3:n.717A>G
NM_001320415.2:c.199A>G NP_001307344.1:p.Thr67Ala
NM_002382.5:c.388A>G MANE Select NP_002373.3:p.Thr130Ala
NM_145112.3:c.361A>G NP_660087.1:p.Thr121Ala
NM_145113.3:c.*177A>G NP_660088.1:n.*177A>G
NM_001271069.2:c.144+17137A>G NP_001257998.1:n.144+17137A>G
NM_197957.4:c.171+17137A>G NP_932061.1:n.171+17137A>G