Canonical Allele Identifier: CA390035915

Gene: MAX

Linked Data

• ClinVar Variation Id: 2568118
• ClinVar RCV Id: RCV003297546 ; RCV003517483
• MyVariant Identifiers: chr14:g.65544732T>C (hg19) ; chr14:g.65078014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65078014T>C , CM000676.2:g.65078014T>C	GRCh38
NC_000014.8:g.65544732T>C , CM000676.1:g.65544732T>C	GRCh37
NC_000014.7:g.64614485T>C	NCBI36
NG_029830.1:g.29496A>G , LRG_530:g.29496A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.-26A>G	ENSP00000452206.2:n.-26A>G
ENST00000556979.6:c.194A>G	ENSP00000452378.1:p.Asp65Gly
ENST00000358664.9:c.194A>G MANE Select	ENSP00000351490.4:p.Asp65Gly
ENST00000651648.1:c.145-7645A>G	ENSP00000498863.1:n.145-7645A>G
ENST00000284165.10:c.194A>G	ENSP00000284165.6:p.Asp65Gly
ENST00000341653.6:c.171+15694A>G	ENSP00000342482.2:n.171+15694A>G
ENST00000358402.8:c.167A>G	ENSP00000351175.4:p.Asp56Gly
ENST00000358664.8:c.194A>G	ENSP00000351490.4:p.Asp65Gly
ENST00000394606.6:c.194A>G	ENSP00000378104.2:p.Asp65Gly
ENST00000553928.5:c.194A>G	ENSP00000451907.1:p.Asp65Gly
ENST00000553951.1:n.271A>G
ENST00000555419.5:c.86A>G	ENSP00000452405.1:p.Asp29Gly
ENST00000555667.5:c.167A>G	ENSP00000452286.1:p.Asp56Gly
ENST00000555932.5:c.37-1351A>G	ENSP00000450763.1:n.37-1351A>G
ENST00000556443.5:c.167A>G	ENSP00000450818.1:p.Asp56Gly
ENST00000556892.5:c.-26A>G	ENSP00000452206.1:n.-26A>G
ENST00000556979.5:c.194A>G	ENSP00000452378.1:p.Asp65Gly
ENST00000557277.5:c.-81A>G	ENSP00000450955.1:n.-81A>G
ENST00000557746.5:c.167A>G	ENSP00000452197.1:p.Asp56Gly
ENST00000618858.4:c.194A>G	ENSP00000480127.1:p.Asp65Gly
NM_001271069.1:c.144+15694A>G	NP_001257998.1:n.144+15694A>G
NM_002382.4:c.194A>G	NP_002373.3:p.Asp65Gly
NM_145112.2:c.167A>G	NP_660087.1:p.Asp56Gly
NM_145113.2:c.194A>G	NP_660088.1:p.Asp65Gly
NM_197957.3:c.171+15694A>G	NP_932061.1:n.171+15694A>G
NR_073137.1:n.318A>G
XM_011536773.1:c.194A>G	XP_011535075.1:p.Asp65Gly
XR_429315.2:n.396A>G
XR_943450.1:n.396A>G
XR_943451.1:n.396A>G
XR_943452.1:n.358A>G
NM_001320415.1:c.-81A>G	NP_001307344.1:n.-81A>G
XM_011536773.3:c.194A>G	XP_011535075.1:p.Asp65Gly
XM_017021312.2:c.-81A>G	XP_016876801.1:n.-81A>G
XM_017021313.1:c.-81A>G	XP_016876802.1:n.-81A>G
XR_001750326.2:n.357A>G
XR_001750327.2:n.357A>G
XR_002957553.1:n.387A>G
XR_943450.3:n.396A>G
XR_943451.3:n.396A>G
XR_943452.3:n.357A>G
NM_001320415.2:c.-81A>G	NP_001307344.1:n.-81A>G
NM_002382.5:c.194A>G MANE Select	NP_002373.3:p.Asp65Gly
NM_145112.3:c.167A>G	NP_660087.1:p.Asp56Gly
NM_145113.3:c.194A>G	NP_660088.1:p.Asp65Gly
NM_001271069.2:c.144+15694A>G	NP_001257998.1:n.144+15694A>G
NM_197957.4:c.171+15694A>G	NP_932061.1:n.171+15694A>G