Canonical Allele Identifier: CA10635099
Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 313813
ClinVar RCV Id: RCV000318609
dbSNP Id: rs762709691

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076306G>A , CM000676.2:g.65076306G>A GRCh38
NC_000014.8:g.65543024G>A , CM000676.1:g.65543024G>A GRCh37
NC_000014.7:g.64612777G>A NCBI36
NG_029830.1:g.31204C>T , LRG_530:g.31204C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000556892.6:c.*170C>T ENSP00000452206.2:n.*170C>T
ENST00000556979.6:c.*1106C>T ENSP00000452378.1:n.*1106C>T
ENST00000358664.9:c.*170C>T MANE Select ENSP00000351490.4:n.*170C>T
ENST00000651648.1:c.145-5937C>T ENSP00000498863.1:n.145-5937C>T
ENST00000284165.10:c.*1497C>T ENSP00000284165.6:n.*1497C>T
ENST00000341653.6:c.171+17402C>T ENSP00000342482.2:n.171+17402C>T
ENST00000358402.8:c.*170C>T ENSP00000351175.4:n.*170C>T
ENST00000358664.8:c.*170C>T ENSP00000351490.4:n.*170C>T
ENST00000394606.6:c.*426C>T ENSP00000378104.2:n.*426C>T
ENST00000555419.5:c.545C>T ENSP00000452405.1:n.545C>T
ENST00000555932.5:c.*145C>T ENSP00000450763.1:n.*145C>T
ENST00000618858.4:c.*442C>T ENSP00000480127.1:n.*442C>T
NM_001271069.1:c.144+17402C>T NP_001257998.1:n.144+17402C>T
NM_002382.4:c.*170C>T NP_002373.3:n.*170C>T
NM_145112.2:c.*170C>T NP_660087.1:n.*170C>T
NM_145113.2:c.*442C>T NP_660088.1:n.*442C>T
NM_197957.3:c.171+17402C>T NP_932061.1:n.171+17402C>T
NR_073137.1:n.777C>T
XR_429315.2:n.940C>T
NM_001320415.1:c.*170C>T NP_001307344.1:n.*170C>T
XM_017021312.2:c.*170C>T XP_016876801.1:n.*170C>T
XM_017021313.1:c.*170C>T XP_016876802.1:n.*170C>T
XR_001750326.2:n.998C>T
XR_001750327.2:n.917C>T
XR_002957553.1:n.1431C>T
XR_943450.3:n.1021C>T
XR_943451.3:n.1037C>T
XR_943452.3:n.982C>T
NM_001320415.2:c.*170C>T NP_001307344.1:n.*170C>T
NM_002382.5:c.*170C>T MANE Select NP_002373.3:n.*170C>T
NM_145112.3:c.*170C>T NP_660087.1:n.*170C>T
NM_145113.3:c.*442C>T NP_660088.1:n.*442C>T
NM_001271069.2:c.144+17402C>T NP_001257998.1:n.144+17402C>T
NM_197957.4:c.171+17402C>T NP_932061.1:n.171+17402C>T