Canonical Allele Identifier: CA390038971
Gene: MAX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65102315C>G , CM000676.2:g.65102315C>G GRCh38
NC_000014.8:g.65569033C>G , CM000676.1:g.65569033C>G GRCh37
NC_000014.7:g.64638786C>G NCBI36
NG_029830.1:g.5195G>C , LRG_530:g.5195G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.-157+194G>C ENSP00000452206.2:n.-157+194G>C
ENST00000556979.6:c.25G>C ENSP00000452378.1:p.Val9Leu
ENST00000358664.9:c.25G>C MANE Select ENSP00000351490.4:p.Val9Leu
ENST00000651648.1:c.25G>C ENSP00000498863.1:p.Val9Leu
ENST00000246163.2:c.25G>C ENSP00000246163.2:p.Val9Leu
ENST00000284165.10:c.25G>C ENSP00000284165.6:p.Val9Leu
ENST00000341653.6:c.25G>C ENSP00000342482.2:p.Val9Leu
ENST00000358402.8:c.25G>C ENSP00000351175.4:p.Val9Leu
ENST00000358664.8:c.25G>C ENSP00000351490.4:p.Val9Leu
ENST00000394606.6:c.25G>C ENSP00000378104.2:p.Val9Leu
ENST00000553928.5:c.25G>C ENSP00000451907.1:p.Val9Leu
ENST00000554709.1:n.203G>C
ENST00000555419.5:c.25G>C ENSP00000452405.1:p.Val9Leu
ENST00000555667.5:c.25G>C ENSP00000452286.1:p.Val9Leu
ENST00000555932.5:c.25G>C ENSP00000450763.1:p.Val9Leu
ENST00000556443.5:c.25G>C ENSP00000450818.1:p.Val9Leu
ENST00000556702.1:n.164G>C
ENST00000556892.5:c.-157+194G>C ENSP00000452206.1:n.-157+194G>C
ENST00000556979.5:c.25G>C ENSP00000452378.1:p.Val9Leu
ENST00000557277.5:c.-239+194G>C ENSP00000450955.1:n.-239+194G>C
ENST00000557746.5:c.25G>C ENSP00000452197.1:p.Val9Leu
ENST00000618858.4:c.25G>C ENSP00000480127.1:p.Val9Leu
NM_001271068.1:c.25G>C NP_001257997.1:p.Val9Leu
NM_001271069.1:c.25G>C NP_001257998.1:p.Val9Leu
NM_002382.4:c.25G>C NP_002373.3:p.Val9Leu
NM_145112.2:c.25G>C NP_660087.1:p.Val9Leu
NM_145113.2:c.25G>C NP_660088.1:p.Val9Leu
NM_145114.2:c.25G>C NP_660089.1:p.Val9Leu
NM_197957.3:c.25G>C NP_932061.1:p.Val9Leu
NR_073137.1:n.187+194G>C
NR_073138.1:n.187+194G>C
XM_011536773.1:c.25G>C XP_011535075.1:p.Val9Leu
XR_429315.2:n.227G>C
XR_943450.1:n.227G>C
XR_943451.1:n.227G>C
XR_943452.1:n.216G>C
NM_001320415.1:c.-250G>C NP_001307344.1:n.-250G>C
XM_011536773.3:c.25G>C XP_011535075.1:p.Val9Leu
XM_017021312.2:c.-223G>C XP_016876801.1:n.-223G>C
XR_001750326.2:n.215G>C
XR_001750327.2:n.215G>C
XR_002957553.1:n.218G>C
XR_943450.3:n.227G>C
XR_943451.3:n.227G>C
XR_943452.3:n.215G>C
NM_001320415.2:c.-250G>C NP_001307344.1:n.-250G>C
NM_002382.5:c.25G>C MANE Select NP_002373.3:p.Val9Leu
NM_145112.3:c.25G>C NP_660087.1:p.Val9Leu
NM_145113.3:c.25G>C NP_660088.1:p.Val9Leu
NM_001271068.2:c.25G>C NP_001257997.1:p.Val9Leu
NM_001271069.2:c.25G>C NP_001257998.1:p.Val9Leu
NM_145114.3:c.25G>C NP_660089.1:p.Val9Leu
NM_197957.4:c.25G>C NP_932061.1:p.Val9Leu