Canonical Allele Identifier: CA10640633
Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 313789
ClinVar RCV Id: RCV000275219
dbSNP Id: rs886050628

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65075191A>G , CM000676.2:g.65075191A>G GRCh38
NC_000014.8:g.65541909A>G , CM000676.1:g.65541909A>G GRCh37
NC_000014.7:g.64611662A>G NCBI36
NG_029830.1:g.32319T>C , LRG_530:g.32319T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000556979.6:c.*2221T>C ENSP00000452378.1:n.*2221T>C
ENST00000358664.9:c.*1285T>C MANE Select ENSP00000351490.4:n.*1285T>C
ENST00000651648.1:c.145-4822T>C ENSP00000498863.1:n.145-4822T>C
ENST00000341653.6:c.171+18517T>C ENSP00000342482.2:n.171+18517T>C
ENST00000358402.8:c.*1285T>C ENSP00000351175.4:n.*1285T>C
ENST00000394606.6:c.*1541T>C ENSP00000378104.2:n.*1541T>C
ENST00000555932.5:c.*1260T>C ENSP00000450763.1:n.*1260T>C
ENST00000618858.4:c.*1557T>C ENSP00000480127.1:n.*1557T>C
NM_001271069.1:c.144+18517T>C NP_001257998.1:n.144+18517T>C
NM_002382.4:c.*1285T>C NP_002373.3:n.*1285T>C
NM_145112.2:c.*1285T>C NP_660087.1:n.*1285T>C
NM_145113.2:c.*1557T>C NP_660088.1:n.*1557T>C
NM_197957.3:c.171+18517T>C NP_932061.1:n.171+18517T>C
NR_073137.1:n.1892T>C
XR_429315.2:n.2055T>C
NM_001320415.1:c.*1285T>C NP_001307344.1:n.*1285T>C
XM_017021312.2:c.*1285T>C XP_016876801.1:n.*1285T>C
XM_017021313.1:c.*1285T>C XP_016876802.1:n.*1285T>C
XR_001750326.2:n.2113T>C
XR_001750327.2:n.2032T>C
XR_002957553.1:n.2546T>C
XR_943450.3:n.2136T>C
XR_943451.3:n.2152T>C
XR_943452.3:n.2097T>C
NM_001320415.2:c.*1285T>C NP_001307344.1:n.*1285T>C
NM_002382.5:c.*1285T>C MANE Select NP_002373.3:n.*1285T>C
NM_145112.3:c.*1285T>C NP_660087.1:n.*1285T>C
NM_145113.3:c.*1557T>C NP_660088.1:n.*1557T>C
NM_001271069.2:c.144+18517T>C NP_001257998.1:n.144+18517T>C
NM_197957.4:c.171+18517T>C NP_932061.1:n.171+18517T>C