Canonical Allele Identifier: CA390031396

Gene: MAX

Linked Data

• dbSNP Id: rs2139739813
• COSMIC: COSM5920697
• MyVariant Identifiers: chr14:g.65543250C>T (hg19) ; chr14:g.65076532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076532C>T , CM000676.2:g.65076532C>T	GRCh38
NC_000014.8:g.65543250C>T , CM000676.1:g.65543250C>T	GRCh37
NC_000014.7:g.64613003C>T	NCBI36
NG_029830.1:g.30978G>A , LRG_530:g.30978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.208G>A	ENSP00000452206.2:p.Glu70Lys
ENST00000556979.6:c.*880G>A	ENSP00000452378.1:n.*880G>A
ENST00000358664.9:c.427G>A MANE Select	ENSP00000351490.4:p.Glu143Lys
ENST00000651648.1:c.145-6163G>A	ENSP00000498863.1:n.145-6163G>A
ENST00000284165.10:c.*1271G>A	ENSP00000284165.6:n.*1271G>A
ENST00000341653.6:c.171+17176G>A	ENSP00000342482.2:n.171+17176G>A
ENST00000358402.8:c.400G>A	ENSP00000351175.4:p.Glu134Lys
ENST00000358664.8:c.427G>A	ENSP00000351490.4:p.Glu143Lys
ENST00000394606.6:c.*200G>A	ENSP00000378104.2:n.*200G>A
ENST00000553928.5:c.*216G>A	ENSP00000451907.1:n.*216G>A
ENST00000555419.5:c.319G>A	ENSP00000452405.1:p.Glu107Lys
ENST00000555932.5:c.168G>A	ENSP00000450763.1:p.Arg56=
ENST00000557277.5:c.238G>A	ENSP00000450955.1:p.Glu80Lys
ENST00000618858.4:c.*216G>A	ENSP00000480127.1:n.*216G>A
NM_001271069.1:c.144+17176G>A	NP_001257998.1:n.144+17176G>A
NM_002382.4:c.427G>A	NP_002373.3:p.Glu143Lys
NM_145112.2:c.400G>A	NP_660087.1:p.Glu134Lys
NM_145113.2:c.*216G>A	NP_660088.1:n.*216G>A
NM_197957.3:c.171+17176G>A	NP_932061.1:n.171+17176G>A
NR_073137.1:n.551G>A
XR_429315.2:n.714G>A
NM_001320415.1:c.238G>A	NP_001307344.1:p.Glu80Lys
XM_017021312.2:c.238G>A	XP_016876801.1:p.Glu80Lys
XM_017021313.1:c.238G>A	XP_016876802.1:p.Glu80Lys
XR_001750326.2:n.772G>A
XR_001750327.2:n.691G>A
XR_002957553.1:n.1205G>A
XR_943450.3:n.795G>A
XR_943451.3:n.811G>A
XR_943452.3:n.756G>A
NM_001320415.2:c.238G>A	NP_001307344.1:p.Glu80Lys
NM_002382.5:c.427G>A MANE Select	NP_002373.3:p.Glu143Lys
NM_145112.3:c.400G>A	NP_660087.1:p.Glu134Lys
NM_145113.3:c.*216G>A	NP_660088.1:n.*216G>A
NM_001271069.2:c.144+17176G>A	NP_001257998.1:n.144+17176G>A
NM_197957.4:c.171+17176G>A	NP_932061.1:n.171+17176G>A