Canonical Allele Identifier: CA390031017

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543196A>C (hg19) ; chr14:g.65076478A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076478A>C , CM000676.2:g.65076478A>C	GRCh38
NC_000014.8:g.65543196A>C , CM000676.1:g.65543196A>C	GRCh37
NC_000014.7:g.64612949A>C	NCBI36
NG_029830.1:g.31032T>G , LRG_530:g.31032T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.262T>G	ENSP00000452206.2:p.Ter88Glu
ENST00000556979.6:c.*934T>G	ENSP00000452378.1:n.*934T>G
ENST00000358664.9:c.481T>G MANE Select	ENSP00000351490.4:p.Ter161Glu
ENST00000651648.1:c.145-6109T>G	ENSP00000498863.1:n.145-6109T>G
ENST00000284165.10:c.*1325T>G	ENSP00000284165.6:n.*1325T>G
ENST00000341653.6:c.171+17230T>G	ENSP00000342482.2:n.171+17230T>G
ENST00000358402.8:c.454T>G	ENSP00000351175.4:p.Ter152Glu
ENST00000358664.8:c.481T>G	ENSP00000351490.4:p.Ter161Glu
ENST00000394606.6:c.*254T>G	ENSP00000378104.2:n.*254T>G
ENST00000553928.5:c.*270T>G	ENSP00000451907.1:n.*270T>G
ENST00000555419.5:c.373T>G	ENSP00000452405.1:p.Ter125Glu
ENST00000555932.5:c.222T>G	ENSP00000450763.1:p.Ala74=
ENST00000557277.5:c.292T>G	ENSP00000450955.1:p.Ter98Glu
ENST00000618858.4:c.*270T>G	ENSP00000480127.1:n.*270T>G
NM_001271069.1:c.144+17230T>G	NP_001257998.1:n.144+17230T>G
NM_002382.4:c.481T>G	NP_002373.3:p.Ter161Glu
NM_145112.2:c.454T>G	NP_660087.1:p.Ter152Glu
NM_145113.2:c.*270T>G	NP_660088.1:n.*270T>G
NM_197957.3:c.171+17230T>G	NP_932061.1:n.171+17230T>G
NR_073137.1:n.605T>G
XR_429315.2:n.768T>G
NM_001320415.1:c.292T>G	NP_001307344.1:p.Ter98Glu
XM_017021312.2:c.292T>G	XP_016876801.1:p.Ter98Glu
XM_017021313.1:c.292T>G	XP_016876802.1:p.Ter98Glu
XR_001750326.2:n.826T>G
XR_001750327.2:n.745T>G
XR_002957553.1:n.1259T>G
XR_943450.3:n.849T>G
XR_943451.3:n.865T>G
XR_943452.3:n.810T>G
NM_001320415.2:c.292T>G	NP_001307344.1:p.Ter98Glu
NM_002382.5:c.481T>G MANE Select	NP_002373.3:p.Ter161Glu
NM_145112.3:c.454T>G	NP_660087.1:p.Ter152Glu
NM_145113.3:c.*270T>G	NP_660088.1:n.*270T>G
NM_001271069.2:c.144+17230T>G	NP_001257998.1:n.144+17230T>G
NM_197957.4:c.171+17230T>G	NP_932061.1:n.171+17230T>G