Canonical Allele Identifier: CA390031383

Gene: MAX

Linked Data

• ClinVar Variation Id: 1042009
• ClinVar RCV Id: RCV001345899 ; RCV002246324
• dbSNP Id: rs773818427
• MyVariant Identifiers: chr14:g.65543248C>G (hg19) ; chr14:g.65076530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076530C>G , CM000676.2:g.65076530C>G	GRCh38
NC_000014.8:g.65543248C>G , CM000676.1:g.65543248C>G	GRCh37
NC_000014.7:g.64613001C>G	NCBI36
NG_029830.1:g.30980G>C , LRG_530:g.30980G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.210G>C	ENSP00000452206.2:p.Glu70Asp
ENST00000556979.6:c.*882G>C	ENSP00000452378.1:n.*882G>C
ENST00000358664.9:c.429G>C MANE Select	ENSP00000351490.4:p.Glu143Asp
ENST00000651648.1:c.145-6161G>C	ENSP00000498863.1:n.145-6161G>C
ENST00000284165.10:c.*1273G>C	ENSP00000284165.6:n.*1273G>C
ENST00000341653.6:c.171+17178G>C	ENSP00000342482.2:n.171+17178G>C
ENST00000358402.8:c.402G>C	ENSP00000351175.4:p.Glu134Asp
ENST00000358664.8:c.429G>C	ENSP00000351490.4:p.Glu143Asp
ENST00000394606.6:c.*202G>C	ENSP00000378104.2:n.*202G>C
ENST00000553928.5:c.*218G>C	ENSP00000451907.1:n.*218G>C
ENST00000555419.5:c.321G>C	ENSP00000452405.1:p.Glu107Asp
ENST00000555932.5:c.170G>C	ENSP00000450763.1:p.Ser57Thr
ENST00000557277.5:c.240G>C	ENSP00000450955.1:p.Glu80Asp
ENST00000618858.4:c.*218G>C	ENSP00000480127.1:n.*218G>C
NM_001271069.1:c.144+17178G>C	NP_001257998.1:n.144+17178G>C
NM_002382.4:c.429G>C	NP_002373.3:p.Glu143Asp
NM_145112.2:c.402G>C	NP_660087.1:p.Glu134Asp
NM_145113.2:c.*218G>C	NP_660088.1:n.*218G>C
NM_197957.3:c.171+17178G>C	NP_932061.1:n.171+17178G>C
NR_073137.1:n.553G>C
XR_429315.2:n.716G>C
NM_001320415.1:c.240G>C	NP_001307344.1:p.Glu80Asp
XM_017021312.2:c.240G>C	XP_016876801.1:p.Glu80Asp
XM_017021313.1:c.240G>C	XP_016876802.1:p.Glu80Asp
XR_001750326.2:n.774G>C
XR_001750327.2:n.693G>C
XR_002957553.1:n.1207G>C
XR_943450.3:n.797G>C
XR_943451.3:n.813G>C
XR_943452.3:n.758G>C
NM_001320415.2:c.240G>C	NP_001307344.1:p.Glu80Asp
NM_002382.5:c.429G>C MANE Select	NP_002373.3:p.Glu143Asp
NM_145112.3:c.402G>C	NP_660087.1:p.Glu134Asp
NM_145113.3:c.*218G>C	NP_660088.1:n.*218G>C
NM_001271069.2:c.144+17178G>C	NP_001257998.1:n.144+17178G>C
NM_197957.4:c.171+17178G>C	NP_932061.1:n.171+17178G>C