Canonical Allele Identifier: CA390035988

Gene: MAX

Linked Data

• dbSNP Id: rs2063106020
• MyVariant Identifiers: chr14:g.65544747C>A (hg19) ; chr14:g.65078029C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65078029C>A , CM000676.2:g.65078029C>A	GRCh38
NC_000014.8:g.65544747C>A , CM000676.1:g.65544747C>A	GRCh37
NC_000014.7:g.64614500C>A	NCBI36
NG_029830.1:g.29481G>T , LRG_530:g.29481G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.-41G>T	ENSP00000452206.2:n.-41G>T
ENST00000556979.6:c.179G>T	ENSP00000452378.1:p.Arg60Leu
ENST00000358664.9:c.179G>T MANE Select	ENSP00000351490.4:p.Arg60Leu
ENST00000651648.1:c.145-7660G>T	ENSP00000498863.1:n.145-7660G>T
ENST00000284165.10:c.179G>T	ENSP00000284165.6:p.Arg60Leu
ENST00000341653.6:c.171+15679G>T	ENSP00000342482.2:n.171+15679G>T
ENST00000358402.8:c.152G>T	ENSP00000351175.4:p.Arg51Leu
ENST00000358664.8:c.179G>T	ENSP00000351490.4:p.Arg60Leu
ENST00000394606.6:c.179G>T	ENSP00000378104.2:p.Arg60Leu
ENST00000553928.5:c.179G>T	ENSP00000451907.1:p.Arg60Leu
ENST00000553951.1:n.256G>T
ENST00000555419.5:c.71G>T	ENSP00000452405.1:p.Arg24Leu
ENST00000555667.5:c.152G>T	ENSP00000452286.1:p.Arg51Leu
ENST00000555932.5:c.37-1366G>T	ENSP00000450763.1:n.37-1366G>T
ENST00000556443.5:c.152G>T	ENSP00000450818.1:p.Arg51Leu
ENST00000556892.5:c.-41G>T	ENSP00000452206.1:n.-41G>T
ENST00000556979.5:c.179G>T	ENSP00000452378.1:p.Arg60Leu
ENST00000557277.5:c.-96G>T	ENSP00000450955.1:n.-96G>T
ENST00000557746.5:c.152G>T	ENSP00000452197.1:p.Arg51Leu
ENST00000618858.4:c.179G>T	ENSP00000480127.1:p.Arg60Leu
NM_001271069.1:c.144+15679G>T	NP_001257998.1:n.144+15679G>T
NM_002382.4:c.179G>T	NP_002373.3:p.Arg60Leu
NM_145112.2:c.152G>T	NP_660087.1:p.Arg51Leu
NM_145113.2:c.179G>T	NP_660088.1:p.Arg60Leu
NM_197957.3:c.171+15679G>T	NP_932061.1:n.171+15679G>T
NR_073137.1:n.303G>T
XM_011536773.1:c.179G>T	XP_011535075.1:p.Arg60Leu
XR_429315.2:n.381G>T
XR_943450.1:n.381G>T
XR_943451.1:n.381G>T
XR_943452.1:n.343G>T
NM_001320415.1:c.-96G>T	NP_001307344.1:n.-96G>T
XM_011536773.3:c.179G>T	XP_011535075.1:p.Arg60Leu
XM_017021312.2:c.-96G>T	XP_016876801.1:n.-96G>T
XM_017021313.1:c.-96G>T	XP_016876802.1:n.-96G>T
XR_001750326.2:n.342G>T
XR_001750327.2:n.342G>T
XR_002957553.1:n.372G>T
XR_943450.3:n.381G>T
XR_943451.3:n.381G>T
XR_943452.3:n.342G>T
NM_001320415.2:c.-96G>T	NP_001307344.1:n.-96G>T
NM_002382.5:c.179G>T MANE Select	NP_002373.3:p.Arg60Leu
NM_145112.3:c.152G>T	NP_660087.1:p.Arg51Leu
NM_145113.3:c.179G>T	NP_660088.1:p.Arg60Leu
NM_001271069.2:c.144+15679G>T	NP_001257998.1:n.144+15679G>T
NM_197957.4:c.171+15679G>T	NP_932061.1:n.171+15679G>T