Canonical Allele Identifier: CA390031599
Gene: MAX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076565A>C , CM000676.2:g.65076565A>C GRCh38
NC_000014.8:g.65543283A>C , CM000676.1:g.65543283A>C GRCh37
NC_000014.7:g.64613036A>C NCBI36
NG_029830.1:g.30945T>G , LRG_530:g.30945T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.175T>G ENSP00000452206.2:p.Ser59Ala
ENST00000556979.6:c.*847T>G ENSP00000452378.1:n.*847T>G
ENST00000358664.9:c.394T>G MANE Select ENSP00000351490.4:p.Ser132Ala
ENST00000651648.1:c.145-6196T>G ENSP00000498863.1:n.145-6196T>G
ENST00000284165.10:c.*1238T>G ENSP00000284165.6:n.*1238T>G
ENST00000341653.6:c.171+17143T>G ENSP00000342482.2:n.171+17143T>G
ENST00000358402.8:c.367T>G ENSP00000351175.4:p.Ser123Ala
ENST00000358664.8:c.394T>G ENSP00000351490.4:p.Ser132Ala
ENST00000394606.6:c.*167T>G ENSP00000378104.2:n.*167T>G
ENST00000553928.5:c.*183T>G ENSP00000451907.1:n.*183T>G
ENST00000555419.5:c.286T>G ENSP00000452405.1:p.Ser96Ala
ENST00000555932.5:c.135T>G ENSP00000450763.1:p.Ser45=
ENST00000557277.5:c.205T>G ENSP00000450955.1:p.Ser69Ala
ENST00000618858.4:c.*183T>G ENSP00000480127.1:n.*183T>G
NM_001271069.1:c.144+17143T>G NP_001257998.1:n.144+17143T>G
NM_002382.4:c.394T>G NP_002373.3:p.Ser132Ala
NM_145112.2:c.367T>G NP_660087.1:p.Ser123Ala
NM_145113.2:c.*183T>G NP_660088.1:n.*183T>G
NM_197957.3:c.171+17143T>G NP_932061.1:n.171+17143T>G
NR_073137.1:n.518T>G
XR_429315.2:n.681T>G
NM_001320415.1:c.205T>G NP_001307344.1:p.Ser69Ala
XM_017021312.2:c.205T>G XP_016876801.1:p.Ser69Ala
XM_017021313.1:c.205T>G XP_016876802.1:p.Ser69Ala
XR_001750326.2:n.739T>G
XR_001750327.2:n.658T>G
XR_002957553.1:n.1172T>G
XR_943450.3:n.762T>G
XR_943451.3:n.778T>G
XR_943452.3:n.723T>G
NM_001320415.2:c.205T>G NP_001307344.1:p.Ser69Ala
NM_002382.5:c.394T>G MANE Select NP_002373.3:p.Ser132Ala
NM_145112.3:c.367T>G NP_660087.1:p.Ser123Ala
NM_145113.3:c.*183T>G NP_660088.1:n.*183T>G
NM_001271069.2:c.144+17143T>G NP_001257998.1:n.144+17143T>G
NM_197957.4:c.171+17143T>G NP_932061.1:n.171+17143T>G