Canonical Allele Identifier: CA390031689

Gene: MAX

Linked Data

• ClinVar Variation Id: 1362396
• ClinVar RCV Id: RCV002291778 ; RCV001932267 ; RCV002359304
• dbSNP Id: rs2139740580
• MyVariant Identifiers: chr14:g.65543295C>T (hg19) ; chr14:g.65076577C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076577C>T , CM000676.2:g.65076577C>T	GRCh38
NC_000014.8:g.65543295C>T , CM000676.1:g.65543295C>T	GRCh37
NC_000014.7:g.64613048C>T	NCBI36
NG_029830.1:g.30933G>A , LRG_530:g.30933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.163G>A	ENSP00000452206.2:p.Gly55Ser
ENST00000556979.6:c.*835G>A	ENSP00000452378.1:n.*835G>A
ENST00000358664.9:c.382G>A MANE Select	ENSP00000351490.4:p.Gly128Ser
ENST00000651648.1:c.145-6208G>A	ENSP00000498863.1:n.145-6208G>A
ENST00000284165.10:c.*1226G>A	ENSP00000284165.6:n.*1226G>A
ENST00000341653.6:c.171+17131G>A	ENSP00000342482.2:n.171+17131G>A
ENST00000358402.8:c.355G>A	ENSP00000351175.4:p.Gly119Ser
ENST00000358664.8:c.382G>A	ENSP00000351490.4:p.Gly128Ser
ENST00000394606.6:c.*155G>A	ENSP00000378104.2:n.*155G>A
ENST00000553928.5:c.*171G>A	ENSP00000451907.1:n.*171G>A
ENST00000555419.5:c.274G>A	ENSP00000452405.1:p.Gly92Ser
ENST00000555932.5:c.123G>A	ENSP00000450763.1:p.Arg41=
ENST00000557277.5:c.193G>A	ENSP00000450955.1:p.Gly65Ser
ENST00000618858.4:c.*171G>A	ENSP00000480127.1:n.*171G>A
NM_001271069.1:c.144+17131G>A	NP_001257998.1:n.144+17131G>A
NM_002382.4:c.382G>A	NP_002373.3:p.Gly128Ser
NM_145112.2:c.355G>A	NP_660087.1:p.Gly119Ser
NM_145113.2:c.*171G>A	NP_660088.1:n.*171G>A
NM_197957.3:c.171+17131G>A	NP_932061.1:n.171+17131G>A
NR_073137.1:n.506G>A
XR_429315.2:n.669G>A
XR_943451.1:n.766G>A
NM_001320415.1:c.193G>A	NP_001307344.1:p.Gly65Ser
XM_017021312.2:c.193G>A	XP_016876801.1:p.Gly65Ser
XM_017021313.1:c.193G>A	XP_016876802.1:p.Gly65Ser
XR_001750326.2:n.727G>A
XR_001750327.2:n.646G>A
XR_002957553.1:n.1160G>A
XR_943450.3:n.750G>A
XR_943451.3:n.766G>A
XR_943452.3:n.711G>A
NM_001320415.2:c.193G>A	NP_001307344.1:p.Gly65Ser
NM_002382.5:c.382G>A MANE Select	NP_002373.3:p.Gly128Ser
NM_145112.3:c.355G>A	NP_660087.1:p.Gly119Ser
NM_145113.3:c.*171G>A	NP_660088.1:n.*171G>A
NM_001271069.2:c.144+17131G>A	NP_001257998.1:n.144+17131G>A
NM_197957.4:c.171+17131G>A	NP_932061.1:n.171+17131G>A