Canonical Allele Identifier: CA390030922

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543186C>G (hg19) ; chr14:g.65076468C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076468C>G , CM000676.2:g.65076468C>G	GRCh38
NC_000014.8:g.65543186C>G , CM000676.1:g.65543186C>G	GRCh37
NC_000014.7:g.64612939C>G	NCBI36
NG_029830.1:g.31042G>C , LRG_530:g.31042G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*8G>C	ENSP00000452206.2:n.*8G>C
ENST00000556979.6:c.*944G>C	ENSP00000452378.1:n.*944G>C
ENST00000358664.9:c.*8G>C MANE Select	ENSP00000351490.4:n.*8G>C
ENST00000651648.1:c.145-6099G>C	ENSP00000498863.1:n.145-6099G>C
ENST00000284165.10:c.*1335G>C	ENSP00000284165.6:n.*1335G>C
ENST00000341653.6:c.171+17240G>C	ENSP00000342482.2:n.171+17240G>C
ENST00000358402.8:c.*8G>C	ENSP00000351175.4:n.*8G>C
ENST00000358664.8:c.*8G>C	ENSP00000351490.4:n.*8G>C
ENST00000394606.6:c.*264G>C	ENSP00000378104.2:n.*264G>C
ENST00000553928.5:c.*280G>C	ENSP00000451907.1:n.*280G>C
ENST00000555419.5:c.383G>C	ENSP00000452405.1:n.383G>C
ENST00000555932.5:c.232G>C	ENSP00000450763.1:p.Gly78Arg
ENST00000557277.5:c.*8G>C	ENSP00000450955.1:n.*8G>C
ENST00000618858.4:c.*280G>C	ENSP00000480127.1:n.*280G>C
NM_001271069.1:c.144+17240G>C	NP_001257998.1:n.144+17240G>C
NM_002382.4:c.*8G>C	NP_002373.3:n.*8G>C
NM_145112.2:c.*8G>C	NP_660087.1:n.*8G>C
NM_145113.2:c.*280G>C	NP_660088.1:n.*280G>C
NM_197957.3:c.171+17240G>C	NP_932061.1:n.171+17240G>C
NR_073137.1:n.615G>C
XR_429315.2:n.778G>C
NM_001320415.1:c.*8G>C	NP_001307344.1:n.*8G>C
XM_017021312.2:c.*8G>C	XP_016876801.1:n.*8G>C
XM_017021313.1:c.*8G>C	XP_016876802.1:n.*8G>C
XR_001750326.2:n.836G>C
XR_001750327.2:n.755G>C
XR_002957553.1:n.1269G>C
XR_943450.3:n.859G>C
XR_943451.3:n.875G>C
XR_943452.3:n.820G>C
NM_001320415.2:c.*8G>C	NP_001307344.1:n.*8G>C
NM_002382.5:c.*8G>C MANE Select	NP_002373.3:n.*8G>C
NM_145112.3:c.*8G>C	NP_660087.1:n.*8G>C
NM_145113.3:c.*280G>C	NP_660088.1:n.*280G>C
NM_001271069.2:c.144+17240G>C	NP_001257998.1:n.144+17240G>C
NM_197957.4:c.171+17240G>C	NP_932061.1:n.171+17240G>C