Canonical Allele Identifier: CA390031291

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543233C>A (hg19) ; chr14:g.65076515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076515C>A , CM000676.2:g.65076515C>A	GRCh38
NC_000014.8:g.65543233C>A , CM000676.1:g.65543233C>A	GRCh37
NC_000014.7:g.64612986C>A	NCBI36
NG_029830.1:g.30995G>T , LRG_530:g.30995G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.225G>T	ENSP00000452206.2:p.Glu75Asp
ENST00000556979.6:c.*897G>T	ENSP00000452378.1:n.*897G>T
ENST00000358664.9:c.444G>T MANE Select	ENSP00000351490.4:p.Glu148Asp
ENST00000651648.1:c.145-6146G>T	ENSP00000498863.1:n.145-6146G>T
ENST00000284165.10:c.*1288G>T	ENSP00000284165.6:n.*1288G>T
ENST00000341653.6:c.171+17193G>T	ENSP00000342482.2:n.171+17193G>T
ENST00000358402.8:c.417G>T	ENSP00000351175.4:p.Glu139Asp
ENST00000358664.8:c.444G>T	ENSP00000351490.4:p.Glu148Asp
ENST00000394606.6:c.*217G>T	ENSP00000378104.2:n.*217G>T
ENST00000553928.5:c.*233G>T	ENSP00000451907.1:n.*233G>T
ENST00000555419.5:c.336G>T	ENSP00000452405.1:p.Glu112Asp
ENST00000555932.5:c.185G>T	ENSP00000450763.1:p.Ser62Ile
ENST00000557277.5:c.255G>T	ENSP00000450955.1:p.Glu85Asp
ENST00000618858.4:c.*233G>T	ENSP00000480127.1:n.*233G>T
NM_001271069.1:c.144+17193G>T	NP_001257998.1:n.144+17193G>T
NM_002382.4:c.444G>T	NP_002373.3:p.Glu148Asp
NM_145112.2:c.417G>T	NP_660087.1:p.Glu139Asp
NM_145113.2:c.*233G>T	NP_660088.1:n.*233G>T
NM_197957.3:c.171+17193G>T	NP_932061.1:n.171+17193G>T
NR_073137.1:n.568G>T
XR_429315.2:n.731G>T
NM_001320415.1:c.255G>T	NP_001307344.1:p.Glu85Asp
XM_017021312.2:c.255G>T	XP_016876801.1:p.Glu85Asp
XM_017021313.1:c.255G>T	XP_016876802.1:p.Glu85Asp
XR_001750326.2:n.789G>T
XR_001750327.2:n.708G>T
XR_002957553.1:n.1222G>T
XR_943450.3:n.812G>T
XR_943451.3:n.828G>T
XR_943452.3:n.773G>T
NM_001320415.2:c.255G>T	NP_001307344.1:p.Glu85Asp
NM_002382.5:c.444G>T MANE Select	NP_002373.3:p.Glu148Asp
NM_145112.3:c.417G>T	NP_660087.1:p.Glu139Asp
NM_145113.3:c.*233G>T	NP_660088.1:n.*233G>T
NM_001271069.2:c.144+17193G>T	NP_001257998.1:n.144+17193G>T
NM_197957.4:c.171+17193G>T	NP_932061.1:n.171+17193G>T