Canonical Allele Identifier: CA2625289333

Gene: MAX

Linked Data

• gnomAD v4: 14-65075929-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075929A>T , CM000676.2:g.65075929A>T	GRCh38
NC_000014.8:g.65542647A>T , CM000676.1:g.65542647A>T	GRCh37
NC_000014.7:g.64612400A>T	NCBI36
NG_029830.1:g.31581T>A , LRG_530:g.31581T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.*547T>A	ENSP00000452206.2:n.*547T>A
ENST00000556979.6:c.*1483T>A	ENSP00000452378.1:n.*1483T>A
ENST00000358664.9:c.*547T>A MANE Select	ENSP00000351490.4:n.*547T>A
ENST00000651648.1:c.145-5560T>A	ENSP00000498863.1:n.145-5560T>A
ENST00000284165.10:c.*1874T>A	ENSP00000284165.6:n.*1874T>A
ENST00000341653.6:c.171+17779T>A	ENSP00000342482.2:n.171+17779T>A
ENST00000358402.8:c.*547T>A	ENSP00000351175.4:n.*547T>A
ENST00000358664.8:c.*547T>A	ENSP00000351490.4:n.*547T>A
ENST00000394606.6:c.*803T>A	ENSP00000378104.2:n.*803T>A
ENST00000555932.5:c.*522T>A	ENSP00000450763.1:n.*522T>A
ENST00000618858.4:c.*819T>A	ENSP00000480127.1:n.*819T>A
NM_001271069.1:c.144+17779T>A	NP_001257998.1:n.144+17779T>A
NM_002382.4:c.*547T>A	NP_002373.3:n.*547T>A
NM_145112.2:c.*547T>A	NP_660087.1:n.*547T>A
NM_145113.2:c.*819T>A	NP_660088.1:n.*819T>A
NM_197957.3:c.171+17779T>A	NP_932061.1:n.171+17779T>A
NR_073137.1:n.1154T>A
XR_429315.2:n.1317T>A
NM_001320415.1:c.*547T>A	NP_001307344.1:n.*547T>A
XM_017021312.2:c.*547T>A	XP_016876801.1:n.*547T>A
XM_017021313.1:c.*547T>A	XP_016876802.1:n.*547T>A
XR_001750326.2:n.1375T>A
XR_001750327.2:n.1294T>A
XR_002957553.1:n.1808T>A
XR_943450.3:n.1398T>A
XR_943451.3:n.1414T>A
XR_943452.3:n.1359T>A
NM_001320415.2:c.*547T>A	NP_001307344.1:n.*547T>A
NM_002382.5:c.*547T>A MANE Select	NP_002373.3:n.*547T>A
NM_145112.3:c.*547T>A	NP_660087.1:n.*547T>A
NM_145113.3:c.*819T>A	NP_660088.1:n.*819T>A
NM_001271069.2:c.144+17779T>A	NP_001257998.1:n.144+17779T>A
NM_197957.4:c.171+17779T>A	NP_932061.1:n.171+17779T>A