Canonical Allele Identifier: CA390031316

Gene: MAX

Linked Data

• dbSNP Id: rs1566597948
• MyVariant Identifiers: chr14:g.65543237T>G (hg19) ; chr14:g.65076519T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076519T>G , CM000676.2:g.65076519T>G	GRCh38
NC_000014.8:g.65543237T>G , CM000676.1:g.65543237T>G	GRCh37
NC_000014.7:g.64612990T>G	NCBI36
NG_029830.1:g.30991A>C , LRG_530:g.30991A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.221A>C	ENSP00000452206.2:p.Glu74Ala
ENST00000556979.6:c.*893A>C	ENSP00000452378.1:n.*893A>C
ENST00000358664.9:c.440A>C MANE Select	ENSP00000351490.4:p.Glu147Ala
ENST00000651648.1:c.145-6150A>C	ENSP00000498863.1:n.145-6150A>C
ENST00000284165.10:c.*1284A>C	ENSP00000284165.6:n.*1284A>C
ENST00000341653.6:c.171+17189A>C	ENSP00000342482.2:n.171+17189A>C
ENST00000358402.8:c.413A>C	ENSP00000351175.4:p.Glu138Ala
ENST00000358664.8:c.440A>C	ENSP00000351490.4:p.Glu147Ala
ENST00000394606.6:c.*213A>C	ENSP00000378104.2:n.*213A>C
ENST00000553928.5:c.*229A>C	ENSP00000451907.1:n.*229A>C
ENST00000555419.5:c.332A>C	ENSP00000452405.1:p.Glu111Ala
ENST00000555932.5:c.181A>C	ENSP00000450763.1:p.Lys61Gln
ENST00000557277.5:c.251A>C	ENSP00000450955.1:p.Glu84Ala
ENST00000618858.4:c.*229A>C	ENSP00000480127.1:n.*229A>C
NM_001271069.1:c.144+17189A>C	NP_001257998.1:n.144+17189A>C
NM_002382.4:c.440A>C	NP_002373.3:p.Glu147Ala
NM_145112.2:c.413A>C	NP_660087.1:p.Glu138Ala
NM_145113.2:c.*229A>C	NP_660088.1:n.*229A>C
NM_197957.3:c.171+17189A>C	NP_932061.1:n.171+17189A>C
NR_073137.1:n.564A>C
XR_429315.2:n.727A>C
NM_001320415.1:c.251A>C	NP_001307344.1:p.Glu84Ala
XM_017021312.2:c.251A>C	XP_016876801.1:p.Glu84Ala
XM_017021313.1:c.251A>C	XP_016876802.1:p.Glu84Ala
XR_001750326.2:n.785A>C
XR_001750327.2:n.704A>C
XR_002957553.1:n.1218A>C
XR_943450.3:n.808A>C
XR_943451.3:n.824A>C
XR_943452.3:n.769A>C
NM_001320415.2:c.251A>C	NP_001307344.1:p.Glu84Ala
NM_002382.5:c.440A>C MANE Select	NP_002373.3:p.Glu147Ala
NM_145112.3:c.413A>C	NP_660087.1:p.Glu138Ala
NM_145113.3:c.*229A>C	NP_660088.1:n.*229A>C
NM_001271069.2:c.144+17189A>C	NP_001257998.1:n.144+17189A>C
NM_197957.4:c.171+17189A>C	NP_932061.1:n.171+17189A>C