Canonical Allele Identifier: CA2507987949

Gene: MAX

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075194C>T , CM000676.2:g.65075194C>T	GRCh38
NC_000014.8:g.65541912C>T , CM000676.1:g.65541912C>T	GRCh37
NC_000014.7:g.64611665C>T	NCBI36
NG_029830.1:g.32316G>A , LRG_530:g.32316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*2218G>A	ENSP00000452378.1:n.*2218G>A
ENST00000358664.9:c.*1282G>A MANE Select	ENSP00000351490.4:n.*1282G>A
ENST00000651648.1:c.145-4825G>A	ENSP00000498863.1:n.145-4825G>A
ENST00000341653.6:c.171+18514G>A	ENSP00000342482.2:n.171+18514G>A
ENST00000358402.8:c.*1282G>A	ENSP00000351175.4:n.*1282G>A
ENST00000394606.6:c.*1538G>A	ENSP00000378104.2:n.*1538G>A
ENST00000555932.5:c.*1257G>A	ENSP00000450763.1:n.*1257G>A
ENST00000618858.4:c.*1554G>A	ENSP00000480127.1:n.*1554G>A
NM_001271069.1:c.144+18514G>A	NP_001257998.1:n.144+18514G>A
NM_002382.4:c.*1282G>A	NP_002373.3:n.*1282G>A
NM_145112.2:c.*1282G>A	NP_660087.1:n.*1282G>A
NM_145113.2:c.*1554G>A	NP_660088.1:n.*1554G>A
NM_197957.3:c.171+18514G>A	NP_932061.1:n.171+18514G>A
NR_073137.1:n.1889G>A
XR_429315.2:n.2052G>A
NM_001320415.1:c.*1282G>A	NP_001307344.1:n.*1282G>A
XM_017021312.2:c.*1282G>A	XP_016876801.1:n.*1282G>A
XM_017021313.1:c.*1282G>A	XP_016876802.1:n.*1282G>A
XR_001750326.2:n.2110G>A
XR_001750327.2:n.2029G>A
XR_002957553.1:n.2543G>A
XR_943450.3:n.2133G>A
XR_943451.3:n.2149G>A
XR_943452.3:n.2094G>A
NM_001320415.2:c.*1282G>A	NP_001307344.1:n.*1282G>A
NM_002382.5:c.*1282G>A MANE Select	NP_002373.3:n.*1282G>A
NM_145112.3:c.*1282G>A	NP_660087.1:n.*1282G>A
NM_145113.3:c.*1554G>A	NP_660088.1:n.*1554G>A
NM_001271069.2:c.144+18514G>A	NP_001257998.1:n.144+18514G>A
NM_197957.4:c.171+18514G>A	NP_932061.1:n.171+18514G>A