Canonical Allele Identifier: CA2625289500

Gene: MAX

Linked Data

• gnomAD v4: 14-65076078-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076078G>T , CM000676.2:g.65076078G>T	GRCh38
NC_000014.8:g.65542796G>T , CM000676.1:g.65542796G>T	GRCh37
NC_000014.7:g.64612549G>T	NCBI36
NG_029830.1:g.31432C>A , LRG_530:g.31432C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*398C>A	ENSP00000452206.2:n.*398C>A
ENST00000556979.6:c.*1334C>A	ENSP00000452378.1:n.*1334C>A
ENST00000358664.9:c.*398C>A MANE Select	ENSP00000351490.4:n.*398C>A
ENST00000651648.1:c.145-5709C>A	ENSP00000498863.1:n.145-5709C>A
ENST00000284165.10:c.*1725C>A	ENSP00000284165.6:n.*1725C>A
ENST00000341653.6:c.171+17630C>A	ENSP00000342482.2:n.171+17630C>A
ENST00000358402.8:c.*398C>A	ENSP00000351175.4:n.*398C>A
ENST00000358664.8:c.*398C>A	ENSP00000351490.4:n.*398C>A
ENST00000394606.6:c.*654C>A	ENSP00000378104.2:n.*654C>A
ENST00000555932.5:c.*373C>A	ENSP00000450763.1:n.*373C>A
ENST00000618858.4:c.*670C>A	ENSP00000480127.1:n.*670C>A
NM_001271069.1:c.144+17630C>A	NP_001257998.1:n.144+17630C>A
NM_002382.4:c.*398C>A	NP_002373.3:n.*398C>A
NM_145112.2:c.*398C>A	NP_660087.1:n.*398C>A
NM_145113.2:c.*670C>A	NP_660088.1:n.*670C>A
NM_197957.3:c.171+17630C>A	NP_932061.1:n.171+17630C>A
NR_073137.1:n.1005C>A
XR_429315.2:n.1168C>A
NM_001320415.1:c.*398C>A	NP_001307344.1:n.*398C>A
XM_017021312.2:c.*398C>A	XP_016876801.1:n.*398C>A
XM_017021313.1:c.*398C>A	XP_016876802.1:n.*398C>A
XR_001750326.2:n.1226C>A
XR_001750327.2:n.1145C>A
XR_002957553.1:n.1659C>A
XR_943450.3:n.1249C>A
XR_943451.3:n.1265C>A
XR_943452.3:n.1210C>A
NM_001320415.2:c.*398C>A	NP_001307344.1:n.*398C>A
NM_002382.5:c.*398C>A MANE Select	NP_002373.3:n.*398C>A
NM_145112.3:c.*398C>A	NP_660087.1:n.*398C>A
NM_145113.3:c.*670C>A	NP_660088.1:n.*670C>A
NM_001271069.2:c.144+17630C>A	NP_001257998.1:n.144+17630C>A
NM_197957.4:c.171+17630C>A	NP_932061.1:n.171+17630C>A