Canonical Allele Identifier: CA2625288910

Gene: MAX

Linked Data

• gnomAD v4: 14-65075364-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075364G>T , CM000676.2:g.65075364G>T	GRCh38
NC_000014.8:g.65542082G>T , CM000676.1:g.65542082G>T	GRCh37
NC_000014.7:g.64611835G>T	NCBI36
NG_029830.1:g.32146C>A , LRG_530:g.32146C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000556979.6:c.*2048C>A	ENSP00000452378.1:n.*2048C>A
ENST00000358664.9:c.*1112C>A MANE Select	ENSP00000351490.4:n.*1112C>A
ENST00000651648.1:c.145-4995C>A	ENSP00000498863.1:n.145-4995C>A
ENST00000284165.10:c.*2439C>A	ENSP00000284165.6:n.*2439C>A
ENST00000341653.6:c.171+18344C>A	ENSP00000342482.2:n.171+18344C>A
ENST00000358402.8:c.*1112C>A	ENSP00000351175.4:n.*1112C>A
ENST00000394606.6:c.*1368C>A	ENSP00000378104.2:n.*1368C>A
ENST00000555932.5:c.*1087C>A	ENSP00000450763.1:n.*1087C>A
ENST00000618858.4:c.*1384C>A	ENSP00000480127.1:n.*1384C>A
NM_001271069.1:c.144+18344C>A	NP_001257998.1:n.144+18344C>A
NM_002382.4:c.*1112C>A	NP_002373.3:n.*1112C>A
NM_145112.2:c.*1112C>A	NP_660087.1:n.*1112C>A
NM_145113.2:c.*1384C>A	NP_660088.1:n.*1384C>A
NM_197957.3:c.171+18344C>A	NP_932061.1:n.171+18344C>A
NR_073137.1:n.1719C>A
XR_429315.2:n.1882C>A
NM_001320415.1:c.*1112C>A	NP_001307344.1:n.*1112C>A
XM_017021312.2:c.*1112C>A	XP_016876801.1:n.*1112C>A
XM_017021313.1:c.*1112C>A	XP_016876802.1:n.*1112C>A
XR_001750326.2:n.1940C>A
XR_001750327.2:n.1859C>A
XR_002957553.1:n.2373C>A
XR_943450.3:n.1963C>A
XR_943451.3:n.1979C>A
XR_943452.3:n.1924C>A
NM_001320415.2:c.*1112C>A	NP_001307344.1:n.*1112C>A
NM_002382.5:c.*1112C>A MANE Select	NP_002373.3:n.*1112C>A
NM_145112.3:c.*1112C>A	NP_660087.1:n.*1112C>A
NM_145113.3:c.*1384C>A	NP_660088.1:n.*1384C>A
NM_001271069.2:c.144+18344C>A	NP_001257998.1:n.144+18344C>A
NM_197957.4:c.171+18344C>A	NP_932061.1:n.171+18344C>A