Canonical Allele Identifier: CA390031197

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543220T>C (hg19) ; chr14:g.65076502T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076502T>C , CM000676.2:g.65076502T>C	GRCh38
NC_000014.8:g.65543220T>C , CM000676.1:g.65543220T>C	GRCh37
NC_000014.7:g.64612973T>C	NCBI36
NG_029830.1:g.31008A>G , LRG_530:g.31008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.238A>G	ENSP00000452206.2:p.Lys80Glu
ENST00000556979.6:c.*910A>G	ENSP00000452378.1:n.*910A>G
ENST00000358664.9:c.457A>G MANE Select	ENSP00000351490.4:p.Lys153Glu
ENST00000651648.1:c.145-6133A>G	ENSP00000498863.1:n.145-6133A>G
ENST00000284165.10:c.*1301A>G	ENSP00000284165.6:n.*1301A>G
ENST00000341653.6:c.171+17206A>G	ENSP00000342482.2:n.171+17206A>G
ENST00000358402.8:c.430A>G	ENSP00000351175.4:p.Lys144Glu
ENST00000358664.8:c.457A>G	ENSP00000351490.4:p.Lys153Glu
ENST00000394606.6:c.*230A>G	ENSP00000378104.2:n.*230A>G
ENST00000553928.5:c.*246A>G	ENSP00000451907.1:n.*246A>G
ENST00000555419.5:c.349A>G	ENSP00000452405.1:p.Lys117Glu
ENST00000555932.5:c.198A>G	ENSP00000450763.1:p.Gly66=
ENST00000557277.5:c.268A>G	ENSP00000450955.1:p.Lys90Glu
ENST00000618858.4:c.*246A>G	ENSP00000480127.1:n.*246A>G
NM_001271069.1:c.144+17206A>G	NP_001257998.1:n.144+17206A>G
NM_002382.4:c.457A>G	NP_002373.3:p.Lys153Glu
NM_145112.2:c.430A>G	NP_660087.1:p.Lys144Glu
NM_145113.2:c.*246A>G	NP_660088.1:n.*246A>G
NM_197957.3:c.171+17206A>G	NP_932061.1:n.171+17206A>G
NR_073137.1:n.581A>G
XR_429315.2:n.744A>G
NM_001320415.1:c.268A>G	NP_001307344.1:p.Lys90Glu
XM_017021312.2:c.268A>G	XP_016876801.1:p.Lys90Glu
XM_017021313.1:c.268A>G	XP_016876802.1:p.Lys90Glu
XR_001750326.2:n.802A>G
XR_001750327.2:n.721A>G
XR_002957553.1:n.1235A>G
XR_943450.3:n.825A>G
XR_943451.3:n.841A>G
XR_943452.3:n.786A>G
NM_001320415.2:c.268A>G	NP_001307344.1:p.Lys90Glu
NM_002382.5:c.457A>G MANE Select	NP_002373.3:p.Lys153Glu
NM_145112.3:c.430A>G	NP_660087.1:p.Lys144Glu
NM_145113.3:c.*246A>G	NP_660088.1:n.*246A>G
NM_001271069.2:c.144+17206A>G	NP_001257998.1:n.144+17206A>G
NM_197957.4:c.171+17206A>G	NP_932061.1:n.171+17206A>G