Canonical Allele Identifier: CA2625289400

Gene: MAX

Linked Data

• gnomAD v4: 14-65075989-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075989A>C , CM000676.2:g.65075989A>C	GRCh38
NC_000014.8:g.65542707A>C , CM000676.1:g.65542707A>C	GRCh37
NC_000014.7:g.64612460A>C	NCBI36
NG_029830.1:g.31521T>G , LRG_530:g.31521T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*487T>G	ENSP00000452206.2:n.*487T>G
ENST00000556979.6:c.*1423T>G	ENSP00000452378.1:n.*1423T>G
ENST00000358664.9:c.*487T>G MANE Select	ENSP00000351490.4:n.*487T>G
ENST00000651648.1:c.145-5620T>G	ENSP00000498863.1:n.145-5620T>G
ENST00000284165.10:c.*1814T>G	ENSP00000284165.6:n.*1814T>G
ENST00000341653.6:c.171+17719T>G	ENSP00000342482.2:n.171+17719T>G
ENST00000358402.8:c.*487T>G	ENSP00000351175.4:n.*487T>G
ENST00000358664.8:c.*487T>G	ENSP00000351490.4:n.*487T>G
ENST00000394606.6:c.*743T>G	ENSP00000378104.2:n.*743T>G
ENST00000555932.5:c.*462T>G	ENSP00000450763.1:n.*462T>G
ENST00000618858.4:c.*759T>G	ENSP00000480127.1:n.*759T>G
NM_001271069.1:c.144+17719T>G	NP_001257998.1:n.144+17719T>G
NM_002382.4:c.*487T>G	NP_002373.3:n.*487T>G
NM_145112.2:c.*487T>G	NP_660087.1:n.*487T>G
NM_145113.2:c.*759T>G	NP_660088.1:n.*759T>G
NM_197957.3:c.171+17719T>G	NP_932061.1:n.171+17719T>G
NR_073137.1:n.1094T>G
XR_429315.2:n.1257T>G
NM_001320415.1:c.*487T>G	NP_001307344.1:n.*487T>G
XM_017021312.2:c.*487T>G	XP_016876801.1:n.*487T>G
XM_017021313.1:c.*487T>G	XP_016876802.1:n.*487T>G
XR_001750326.2:n.1315T>G
XR_001750327.2:n.1234T>G
XR_002957553.1:n.1748T>G
XR_943450.3:n.1338T>G
XR_943451.3:n.1354T>G
XR_943452.3:n.1299T>G
NM_001320415.2:c.*487T>G	NP_001307344.1:n.*487T>G
NM_002382.5:c.*487T>G MANE Select	NP_002373.3:n.*487T>G
NM_145112.3:c.*487T>G	NP_660087.1:n.*487T>G
NM_145113.3:c.*759T>G	NP_660088.1:n.*759T>G
NM_001271069.2:c.144+17719T>G	NP_001257998.1:n.144+17719T>G
NM_197957.4:c.171+17719T>G	NP_932061.1:n.171+17719T>G