Canonical Allele Identifier: CA2575554370
Gene: MAX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65075707C>G , CM000676.2:g.65075707C>G GRCh38
NC_000014.8:g.65542425C>G , CM000676.1:g.65542425C>G GRCh37
NC_000014.7:g.64612178C>G NCBI36
NG_029830.1:g.31803G>C , LRG_530:g.31803G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.*769G>C ENSP00000452206.2:n.*769G>C
ENST00000556979.6:c.*1705G>C ENSP00000452378.1:n.*1705G>C
ENST00000358664.9:c.*769G>C MANE Select ENSP00000351490.4:n.*769G>C
ENST00000651648.1:c.145-5338G>C ENSP00000498863.1:n.145-5338G>C
ENST00000284165.10:c.*2096G>C ENSP00000284165.6:n.*2096G>C
ENST00000341653.6:c.171+18001G>C ENSP00000342482.2:n.171+18001G>C
ENST00000358402.8:c.*769G>C ENSP00000351175.4:n.*769G>C
ENST00000358664.8:c.*769G>C ENSP00000351490.4:n.*769G>C
ENST00000394606.6:c.*1025G>C ENSP00000378104.2:n.*1025G>C
ENST00000555932.5:c.*744G>C ENSP00000450763.1:n.*744G>C
ENST00000618858.4:c.*1041G>C ENSP00000480127.1:n.*1041G>C
NM_001271069.1:c.144+18001G>C NP_001257998.1:n.144+18001G>C
NM_002382.4:c.*769G>C NP_002373.3:n.*769G>C
NM_145112.2:c.*769G>C NP_660087.1:n.*769G>C
NM_145113.2:c.*1041G>C NP_660088.1:n.*1041G>C
NM_197957.3:c.171+18001G>C NP_932061.1:n.171+18001G>C
NR_073137.1:n.1376G>C
XR_429315.2:n.1539G>C
NM_001320415.1:c.*769G>C NP_001307344.1:n.*769G>C
XM_017021312.2:c.*769G>C XP_016876801.1:n.*769G>C
XM_017021313.1:c.*769G>C XP_016876802.1:n.*769G>C
XR_001750326.2:n.1597G>C
XR_001750327.2:n.1516G>C
XR_002957553.1:n.2030G>C
XR_943450.3:n.1620G>C
XR_943451.3:n.1636G>C
XR_943452.3:n.1581G>C
NM_001320415.2:c.*769G>C NP_001307344.1:n.*769G>C
NM_002382.5:c.*769G>C MANE Select NP_002373.3:n.*769G>C
NM_145112.3:c.*769G>C NP_660087.1:n.*769G>C
NM_145113.3:c.*1041G>C NP_660088.1:n.*1041G>C
NM_001271069.2:c.144+18001G>C NP_001257998.1:n.144+18001G>C
NM_197957.4:c.171+18001G>C NP_932061.1:n.171+18001G>C