Canonical Allele Identifier: CA10579864

Gene: MAX

Linked Data

• ClinVar Variation Id: 232084
• ClinVar RCV Id: RCV000222659 ; RCV000530997 ; RCV003153504
• dbSNP Id: rs876659544
• gnomAD v4: 14-65076492-C-T
• MyVariant Identifiers: chr14:g.65543210C>T (hg19) ; chr14:g.65076492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076492C>T , CM000676.2:g.65076492C>T	GRCh38
NC_000014.8:g.65543210C>T , CM000676.1:g.65543210C>T	GRCh37
NC_000014.7:g.64612963C>T	NCBI36
NG_029830.1:g.31018G>A , LRG_530:g.31018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.248G>A	ENSP00000452206.2:p.Arg83Gln
ENST00000556979.6:c.*920G>A	ENSP00000452378.1:n.*920G>A
ENST00000358664.9:c.467G>A MANE Select	ENSP00000351490.4:p.Arg156Gln
ENST00000651648.1:c.145-6123G>A	ENSP00000498863.1:n.145-6123G>A
ENST00000284165.10:c.*1311G>A	ENSP00000284165.6:n.*1311G>A
ENST00000341653.6:c.171+17216G>A	ENSP00000342482.2:n.171+17216G>A
ENST00000358402.8:c.440G>A	ENSP00000351175.4:p.Arg147Gln
ENST00000358664.8:c.467G>A	ENSP00000351490.4:p.Arg156Gln
ENST00000394606.6:c.*240G>A	ENSP00000378104.2:n.*240G>A
ENST00000553928.5:c.*256G>A	ENSP00000451907.1:n.*256G>A
ENST00000555419.5:c.359G>A	ENSP00000452405.1:p.Arg120Gln
ENST00000555932.5:c.208G>A	ENSP00000450763.1:p.Gly70Arg
ENST00000557277.5:c.278G>A	ENSP00000450955.1:p.Arg93Gln
ENST00000618858.4:c.*256G>A	ENSP00000480127.1:n.*256G>A
NM_001271069.1:c.144+17216G>A	NP_001257998.1:n.144+17216G>A
NM_002382.4:c.467G>A	NP_002373.3:p.Arg156Gln
NM_145112.2:c.440G>A	NP_660087.1:p.Arg147Gln
NM_145113.2:c.*256G>A	NP_660088.1:n.*256G>A
NM_197957.3:c.171+17216G>A	NP_932061.1:n.171+17216G>A
NR_073137.1:n.591G>A
XR_429315.2:n.754G>A
NM_001320415.1:c.278G>A	NP_001307344.1:p.Arg93Gln
XM_017021312.2:c.278G>A	XP_016876801.1:p.Arg93Gln
XM_017021313.1:c.278G>A	XP_016876802.1:p.Arg93Gln
XR_001750326.2:n.812G>A
XR_001750327.2:n.731G>A
XR_002957553.1:n.1245G>A
XR_943450.3:n.835G>A
XR_943451.3:n.851G>A
XR_943452.3:n.796G>A
NM_001320415.2:c.278G>A	NP_001307344.1:p.Arg93Gln
NM_002382.5:c.467G>A MANE Select	NP_002373.3:p.Arg156Gln
NM_145112.3:c.440G>A	NP_660087.1:p.Arg147Gln
NM_145113.3:c.*256G>A	NP_660088.1:n.*256G>A
NM_001271069.2:c.144+17216G>A	NP_001257998.1:n.144+17216G>A
NM_197957.4:c.171+17216G>A	NP_932061.1:n.171+17216G>A