Canonical Allele Identifier: CA390031800

Gene: MAX

Linked Data

• ClinVar Variation Id: 2676445
• ClinVar RCV Id: RCV003470054 ; RCV004364776
• dbSNP Id: rs1175991420
• gnomAD v3: 14-65076602-G-T
• gnomAD v4: 14-65076602-G-T
• MyVariant Identifiers: chr14:g.65543320G>T (hg19) ; chr14:g.65076602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076602G>T , CM000676.2:g.65076602G>T	GRCh38
NC_000014.8:g.65543320G>T , CM000676.1:g.65543320G>T	GRCh37
NC_000014.7:g.64613073G>T	NCBI36
NG_029830.1:g.30908C>A , LRG_530:g.30908C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.138C>A	ENSP00000452206.2:p.Asp46Glu
ENST00000556979.6:c.*810C>A	ENSP00000452378.1:n.*810C>A
ENST00000358664.9:c.357C>A MANE Select	ENSP00000351490.4:p.Asp119Glu
ENST00000651648.1:c.145-6233C>A	ENSP00000498863.1:n.145-6233C>A
ENST00000284165.10:c.*1201C>A	ENSP00000284165.6:n.*1201C>A
ENST00000341653.6:c.171+17106C>A	ENSP00000342482.2:n.171+17106C>A
ENST00000358402.8:c.330C>A	ENSP00000351175.4:p.Asp110Glu
ENST00000358664.8:c.357C>A	ENSP00000351490.4:p.Asp119Glu
ENST00000394606.6:c.*130C>A	ENSP00000378104.2:n.*130C>A
ENST00000553928.5:c.*146C>A	ENSP00000451907.1:n.*146C>A
ENST00000555419.5:c.249C>A	ENSP00000452405.1:p.Asp83Glu
ENST00000555932.5:c.98C>A	ENSP00000450763.1:p.Thr33Lys
ENST00000557277.5:c.168C>A	ENSP00000450955.1:p.Asp56Glu
ENST00000618858.4:c.*146C>A	ENSP00000480127.1:n.*146C>A
NM_001271069.1:c.144+17106C>A	NP_001257998.1:n.144+17106C>A
NM_002382.4:c.357C>A	NP_002373.3:p.Asp119Glu
NM_145112.2:c.330C>A	NP_660087.1:p.Asp110Glu
NM_145113.2:c.*146C>A	NP_660088.1:n.*146C>A
NM_197957.3:c.171+17106C>A	NP_932061.1:n.171+17106C>A
NR_073137.1:n.481C>A
XR_429315.2:n.644C>A
XR_943450.1:n.725C>A
XR_943451.1:n.741C>A
XR_943452.1:n.687C>A
NM_001320415.1:c.168C>A	NP_001307344.1:p.Asp56Glu
XM_017021312.2:c.168C>A	XP_016876801.1:p.Asp56Glu
XM_017021313.1:c.168C>A	XP_016876802.1:p.Asp56Glu
XR_001750326.2:n.702C>A
XR_001750327.2:n.621C>A
XR_002957553.1:n.1135C>A
XR_943450.3:n.725C>A
XR_943451.3:n.741C>A
XR_943452.3:n.686C>A
NM_001320415.2:c.168C>A	NP_001307344.1:p.Asp56Glu
NM_002382.5:c.357C>A MANE Select	NP_002373.3:p.Asp119Glu
NM_145112.3:c.330C>A	NP_660087.1:p.Asp110Glu
NM_145113.3:c.*146C>A	NP_660088.1:n.*146C>A
NM_001271069.2:c.144+17106C>A	NP_001257998.1:n.144+17106C>A
NM_197957.4:c.171+17106C>A	NP_932061.1:n.171+17106C>A