Canonical Allele Identifier: CA486738091

Gene: MAX

Linked Data

• ClinVar Variation Id: 1672227
• ClinVar RCV Id: RCV002210421
• dbSNP Id: rs2139754832
• MyVariant Identifiers: chr14:g.65544710C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077992C>T , CM000676.2:g.65077992C>T	GRCh38
NC_000014.8:g.65544710C>T , CM000676.1:g.65544710C>T	GRCh37
NC_000014.7:g.64614463C>T	NCBI36
NG_029830.1:g.29518G>A , LRG_530:g.29518G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.-4G>A	ENSP00000452206.2:n.-4G>A
ENST00000556979.6:c.216G>A	ENSP00000452378.1:p.Gln72=
ENST00000358664.9:c.216G>A MANE Select	ENSP00000351490.4:p.Gln72=
ENST00000651648.1:c.145-7623G>A	ENSP00000498863.1:n.145-7623G>A
ENST00000284165.10:c.216G>A	ENSP00000284165.6:p.Gln72=
ENST00000341653.6:c.171+15716G>A	ENSP00000342482.2:n.171+15716G>A
ENST00000358402.8:c.189G>A	ENSP00000351175.4:p.Gln63=
ENST00000358664.8:c.216G>A	ENSP00000351490.4:p.Gln72=
ENST00000394606.6:c.216G>A	ENSP00000378104.2:p.Gln72=
ENST00000553928.5:c.216G>A	ENSP00000451907.1:p.Gln72=
ENST00000553951.1:n.293G>A
ENST00000555419.5:c.108G>A	ENSP00000452405.1:p.Gln36=
ENST00000555667.5:c.189G>A	ENSP00000452286.1:p.Gln63=
ENST00000555932.5:c.37-1329G>A	ENSP00000450763.1:n.37-1329G>A
ENST00000556443.5:c.189G>A	ENSP00000450818.1:p.Gln63=
ENST00000556892.5:c.-4G>A	ENSP00000452206.1:n.-4G>A
ENST00000556979.5:c.216G>A	ENSP00000452378.1:p.Gln72=
ENST00000557277.5:c.-59G>A	ENSP00000450955.1:n.-59G>A
ENST00000557746.5:c.189G>A	ENSP00000452197.1:p.Gln63=
ENST00000618858.4:c.216G>A	ENSP00000480127.1:p.Gln72=
NM_001271069.1:c.144+15716G>A	NP_001257998.1:n.144+15716G>A
NM_002382.4:c.216G>A	NP_002373.3:p.Gln72=
NM_145112.2:c.189G>A	NP_660087.1:p.Gln63=
NM_145113.2:c.216G>A	NP_660088.1:p.Gln72=
NM_197957.3:c.171+15716G>A	NP_932061.1:n.171+15716G>A
NR_073137.1:n.340G>A
XM_011536773.1:c.216G>A	XP_011535075.1:p.Gln72=
XR_429315.2:n.418G>A
XR_943450.1:n.418G>A
XR_943451.1:n.418G>A
XR_943452.1:n.380G>A
NM_001320415.1:c.-59G>A	NP_001307344.1:n.-59G>A
XM_011536773.3:c.216G>A	XP_011535075.1:p.Gln72=
XM_017021312.2:c.-59G>A	XP_016876801.1:n.-59G>A
XM_017021313.1:c.-59G>A	XP_016876802.1:n.-59G>A
XR_001750326.2:n.379G>A
XR_001750327.2:n.379G>A
XR_002957553.1:n.409G>A
XR_943450.3:n.418G>A
XR_943451.3:n.418G>A
XR_943452.3:n.379G>A
NM_001320415.2:c.-59G>A	NP_001307344.1:n.-59G>A
NM_002382.5:c.216G>A MANE Select	NP_002373.3:p.Gln72=
NM_145112.3:c.189G>A	NP_660087.1:p.Gln63=
NM_145113.3:c.216G>A	NP_660088.1:p.Gln72=
NM_001271069.2:c.144+15716G>A	NP_001257998.1:n.144+15716G>A
NM_197957.4:c.171+15716G>A	NP_932061.1:n.171+15716G>A