Canonical Allele Identifier: CA10640636
Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 313795
ClinVar RCV Id: RCV000282996
dbSNP Id: rs886050629

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65075453G>A , CM000676.2:g.65075453G>A GRCh38
NC_000014.8:g.65542171G>A , CM000676.1:g.65542171G>A GRCh37
NC_000014.7:g.64611924G>A NCBI36
NG_029830.1:g.32057C>T , LRG_530:g.32057C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000556979.6:c.*1959C>T ENSP00000452378.1:n.*1959C>T
ENST00000358664.9:c.*1023C>T MANE Select ENSP00000351490.4:n.*1023C>T
ENST00000651648.1:c.145-5084C>T ENSP00000498863.1:n.145-5084C>T
ENST00000284165.10:c.*2350C>T ENSP00000284165.6:n.*2350C>T
ENST00000341653.6:c.171+18255C>T ENSP00000342482.2:n.171+18255C>T
ENST00000358402.8:c.*1023C>T ENSP00000351175.4:n.*1023C>T
ENST00000394606.6:c.*1279C>T ENSP00000378104.2:n.*1279C>T
ENST00000555932.5:c.*998C>T ENSP00000450763.1:n.*998C>T
ENST00000618858.4:c.*1295C>T ENSP00000480127.1:n.*1295C>T
NM_001271069.1:c.144+18255C>T NP_001257998.1:n.144+18255C>T
NM_002382.4:c.*1023C>T NP_002373.3:n.*1023C>T
NM_145112.2:c.*1023C>T NP_660087.1:n.*1023C>T
NM_145113.2:c.*1295C>T NP_660088.1:n.*1295C>T
NM_197957.3:c.171+18255C>T NP_932061.1:n.171+18255C>T
NR_073137.1:n.1630C>T
XR_429315.2:n.1793C>T
NM_001320415.1:c.*1023C>T NP_001307344.1:n.*1023C>T
XM_017021312.2:c.*1023C>T XP_016876801.1:n.*1023C>T
XM_017021313.1:c.*1023C>T XP_016876802.1:n.*1023C>T
XR_001750326.2:n.1851C>T
XR_001750327.2:n.1770C>T
XR_002957553.1:n.2284C>T
XR_943450.3:n.1874C>T
XR_943451.3:n.1890C>T
XR_943452.3:n.1835C>T
NM_001320415.2:c.*1023C>T NP_001307344.1:n.*1023C>T
NM_002382.5:c.*1023C>T MANE Select NP_002373.3:n.*1023C>T
NM_145112.3:c.*1023C>T NP_660087.1:n.*1023C>T
NM_145113.3:c.*1295C>T NP_660088.1:n.*1295C>T
NM_001271069.2:c.144+18255C>T NP_001257998.1:n.144+18255C>T
NM_197957.4:c.171+18255C>T NP_932061.1:n.171+18255C>T