Canonical Allele Identifier: CA390031411
Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 2751479
ClinVar RCV Id: RCV003516925
dbSNP Id: rs2139739878

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076535A>G , CM000676.2:g.65076535A>G GRCh38
NC_000014.8:g.65543253A>G , CM000676.1:g.65543253A>G GRCh37
NC_000014.7:g.64613006A>G NCBI36
NG_029830.1:g.30975T>C , LRG_530:g.30975T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.205T>C ENSP00000452206.2:p.Ser69Pro
ENST00000556979.6:c.*877T>C ENSP00000452378.1:n.*877T>C
ENST00000358664.9:c.424T>C MANE Select ENSP00000351490.4:p.Ser142Pro
ENST00000651648.1:c.145-6166T>C ENSP00000498863.1:n.145-6166T>C
ENST00000284165.10:c.*1268T>C ENSP00000284165.6:n.*1268T>C
ENST00000341653.6:c.171+17173T>C ENSP00000342482.2:n.171+17173T>C
ENST00000358402.8:c.397T>C ENSP00000351175.4:p.Ser133Pro
ENST00000358664.8:c.424T>C ENSP00000351490.4:p.Ser142Pro
ENST00000394606.6:c.*197T>C ENSP00000378104.2:n.*197T>C
ENST00000553928.5:c.*213T>C ENSP00000451907.1:n.*213T>C
ENST00000555419.5:c.316T>C ENSP00000452405.1:p.Ser106Pro
ENST00000555932.5:c.165T>C ENSP00000450763.1:p.Ala55=
ENST00000557277.5:c.235T>C ENSP00000450955.1:p.Ser79Pro
ENST00000618858.4:c.*213T>C ENSP00000480127.1:n.*213T>C
NM_001271069.1:c.144+17173T>C NP_001257998.1:n.144+17173T>C
NM_002382.4:c.424T>C NP_002373.3:p.Ser142Pro
NM_145112.2:c.397T>C NP_660087.1:p.Ser133Pro
NM_145113.2:c.*213T>C NP_660088.1:n.*213T>C
NM_197957.3:c.171+17173T>C NP_932061.1:n.171+17173T>C
NR_073137.1:n.548T>C
XR_429315.2:n.711T>C
NM_001320415.1:c.235T>C NP_001307344.1:p.Ser79Pro
XM_017021312.2:c.235T>C XP_016876801.1:p.Ser79Pro
XM_017021313.1:c.235T>C XP_016876802.1:p.Ser79Pro
XR_001750326.2:n.769T>C
XR_001750327.2:n.688T>C
XR_002957553.1:n.1202T>C
XR_943450.3:n.792T>C
XR_943451.3:n.808T>C
XR_943452.3:n.753T>C
NM_001320415.2:c.235T>C NP_001307344.1:p.Ser79Pro
NM_002382.5:c.424T>C MANE Select NP_002373.3:p.Ser142Pro
NM_145112.3:c.397T>C NP_660087.1:p.Ser133Pro
NM_145113.3:c.*213T>C NP_660088.1:n.*213T>C
NM_001271069.2:c.144+17173T>C NP_001257998.1:n.144+17173T>C
NM_197957.4:c.171+17173T>C NP_932061.1:n.171+17173T>C