Canonical Allele Identifier: CA390031438

Gene: MAX

Linked Data

• ClinVar Variation Id: 1402174
• ClinVar RCV Id: RCV001939784 ; RCV003303343
• dbSNP Id: rs2139739918
• MyVariant Identifiers: chr14:g.65543260G>C (hg19) ; chr14:g.65076542G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076542G>C , CM000676.2:g.65076542G>C	GRCh38
NC_000014.8:g.65543260G>C , CM000676.1:g.65543260G>C	GRCh37
NC_000014.7:g.64613013G>C	NCBI36
NG_029830.1:g.30968C>G , LRG_530:g.30968C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.198C>G	ENSP00000452206.2:p.Asp66Glu
ENST00000556979.6:c.*870C>G	ENSP00000452378.1:n.*870C>G
ENST00000358664.9:c.417C>G MANE Select	ENSP00000351490.4:p.Asp139Glu
ENST00000651648.1:c.145-6173C>G	ENSP00000498863.1:n.145-6173C>G
ENST00000284165.10:c.*1261C>G	ENSP00000284165.6:n.*1261C>G
ENST00000341653.6:c.171+17166C>G	ENSP00000342482.2:n.171+17166C>G
ENST00000358402.8:c.390C>G	ENSP00000351175.4:p.Asp130Glu
ENST00000358664.8:c.417C>G	ENSP00000351490.4:p.Asp139Glu
ENST00000394606.6:c.*190C>G	ENSP00000378104.2:n.*190C>G
ENST00000553928.5:c.*206C>G	ENSP00000451907.1:n.*206C>G
ENST00000555419.5:c.309C>G	ENSP00000452405.1:p.Asp103Glu
ENST00000555932.5:c.158C>G	ENSP00000450763.1:p.Thr53Ser
ENST00000557277.5:c.228C>G	ENSP00000450955.1:p.Asp76Glu
ENST00000618858.4:c.*206C>G	ENSP00000480127.1:n.*206C>G
NM_001271069.1:c.144+17166C>G	NP_001257998.1:n.144+17166C>G
NM_002382.4:c.417C>G	NP_002373.3:p.Asp139Glu
NM_145112.2:c.390C>G	NP_660087.1:p.Asp130Glu
NM_145113.2:c.*206C>G	NP_660088.1:n.*206C>G
NM_197957.3:c.171+17166C>G	NP_932061.1:n.171+17166C>G
NR_073137.1:n.541C>G
XR_429315.2:n.704C>G
NM_001320415.1:c.228C>G	NP_001307344.1:p.Asp76Glu
XM_017021312.2:c.228C>G	XP_016876801.1:p.Asp76Glu
XM_017021313.1:c.228C>G	XP_016876802.1:p.Asp76Glu
XR_001750326.2:n.762C>G
XR_001750327.2:n.681C>G
XR_002957553.1:n.1195C>G
XR_943450.3:n.785C>G
XR_943451.3:n.801C>G
XR_943452.3:n.746C>G
NM_001320415.2:c.228C>G	NP_001307344.1:p.Asp76Glu
NM_002382.5:c.417C>G MANE Select	NP_002373.3:p.Asp139Glu
NM_145112.3:c.390C>G	NP_660087.1:p.Asp130Glu
NM_145113.3:c.*206C>G	NP_660088.1:n.*206C>G
NM_001271069.2:c.144+17166C>G	NP_001257998.1:n.144+17166C>G
NM_197957.4:c.171+17166C>G	NP_932061.1:n.171+17166C>G