Canonical Allele Identifier: CA7232769
Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 880744
ClinVar RCV Id: RCV001109241
dbSNP Id: rs566299166

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076411C>G , CM000676.2:g.65076411C>G GRCh38
NC_000014.8:g.65543129C>G , CM000676.1:g.65543129C>G GRCh37
NC_000014.7:g.64612882C>G NCBI36
NG_029830.1:g.31099G>C , LRG_530:g.31099G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.*65G>C ENSP00000452206.2:n.*65G>C
ENST00000556979.6:c.*1001G>C ENSP00000452378.1:n.*1001G>C
ENST00000358664.9:c.*65G>C MANE Select ENSP00000351490.4:n.*65G>C
ENST00000651648.1:c.145-6042G>C ENSP00000498863.1:n.145-6042G>C
ENST00000284165.10:c.*1392G>C ENSP00000284165.6:n.*1392G>C
ENST00000341653.6:c.171+17297G>C ENSP00000342482.2:n.171+17297G>C
ENST00000358402.8:c.*65G>C ENSP00000351175.4:n.*65G>C
ENST00000358664.8:c.*65G>C ENSP00000351490.4:n.*65G>C
ENST00000394606.6:c.*321G>C ENSP00000378104.2:n.*321G>C
ENST00000555419.5:c.440G>C ENSP00000452405.1:n.440G>C
ENST00000555932.5:c.*40G>C ENSP00000450763.1:n.*40G>C
ENST00000618858.4:c.*337G>C ENSP00000480127.1:n.*337G>C
NM_001271069.1:c.144+17297G>C NP_001257998.1:n.144+17297G>C
NM_002382.4:c.*65G>C NP_002373.3:n.*65G>C
NM_145112.2:c.*65G>C NP_660087.1:n.*65G>C
NM_145113.2:c.*337G>C NP_660088.1:n.*337G>C
NM_197957.3:c.171+17297G>C NP_932061.1:n.171+17297G>C
NR_073137.1:n.672G>C
XR_429315.2:n.835G>C
NM_001320415.1:c.*65G>C NP_001307344.1:n.*65G>C
XM_017021312.2:c.*65G>C XP_016876801.1:n.*65G>C
XM_017021313.1:c.*65G>C XP_016876802.1:n.*65G>C
XR_001750326.2:n.893G>C
XR_001750327.2:n.812G>C
XR_002957553.1:n.1326G>C
XR_943450.3:n.916G>C
XR_943451.3:n.932G>C
XR_943452.3:n.877G>C
NM_001320415.2:c.*65G>C NP_001307344.1:n.*65G>C
NM_002382.5:c.*65G>C MANE Select NP_002373.3:n.*65G>C
NM_145112.3:c.*65G>C NP_660087.1:n.*65G>C
NM_145113.3:c.*337G>C NP_660088.1:n.*337G>C
NM_001271069.2:c.144+17297G>C NP_001257998.1:n.144+17297G>C
NM_197957.4:c.171+17297G>C NP_932061.1:n.171+17297G>C