Canonical Allele Identifier: CA486738092

Gene: MAX

Linked Data

• ClinVar Variation Id: 1786540
• ClinVar RCV Id: RCV002430505
• MyVariant Identifiers: chr14:g.65544713G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077995G>T , CM000676.2:g.65077995G>T	GRCh38
NC_000014.8:g.65544713G>T , CM000676.1:g.65544713G>T	GRCh37
NC_000014.7:g.64614466G>T	NCBI36
NG_029830.1:g.29515C>A , LRG_530:g.29515C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.-7C>A	ENSP00000452206.2:n.-7C>A
ENST00000556979.6:c.213C>A	ENSP00000452378.1:p.Ile71=
ENST00000358664.9:c.213C>A MANE Select	ENSP00000351490.4:p.Ile71=
ENST00000651648.1:c.145-7626C>A	ENSP00000498863.1:n.145-7626C>A
ENST00000284165.10:c.213C>A	ENSP00000284165.6:p.Ile71=
ENST00000341653.6:c.171+15713C>A	ENSP00000342482.2:n.171+15713C>A
ENST00000358402.8:c.186C>A	ENSP00000351175.4:p.Ile62=
ENST00000358664.8:c.213C>A	ENSP00000351490.4:p.Ile71=
ENST00000394606.6:c.213C>A	ENSP00000378104.2:p.Ile71=
ENST00000553928.5:c.213C>A	ENSP00000451907.1:p.Ile71=
ENST00000553951.1:n.290C>A
ENST00000555419.5:c.105C>A	ENSP00000452405.1:p.Ile35=
ENST00000555667.5:c.186C>A	ENSP00000452286.1:p.Ile62=
ENST00000555932.5:c.37-1332C>A	ENSP00000450763.1:n.37-1332C>A
ENST00000556443.5:c.186C>A	ENSP00000450818.1:p.Ile62=
ENST00000556892.5:c.-7C>A	ENSP00000452206.1:n.-7C>A
ENST00000556979.5:c.213C>A	ENSP00000452378.1:p.Ile71=
ENST00000557277.5:c.-62C>A	ENSP00000450955.1:n.-62C>A
ENST00000557746.5:c.186C>A	ENSP00000452197.1:p.Ile62=
ENST00000618858.4:c.213C>A	ENSP00000480127.1:p.Ile71=
NM_001271069.1:c.144+15713C>A	NP_001257998.1:n.144+15713C>A
NM_002382.4:c.213C>A	NP_002373.3:p.Ile71=
NM_145112.2:c.186C>A	NP_660087.1:p.Ile62=
NM_145113.2:c.213C>A	NP_660088.1:p.Ile71=
NM_197957.3:c.171+15713C>A	NP_932061.1:n.171+15713C>A
NR_073137.1:n.337C>A
XM_011536773.1:c.213C>A	XP_011535075.1:p.Ile71=
XR_429315.2:n.415C>A
XR_943450.1:n.415C>A
XR_943451.1:n.415C>A
XR_943452.1:n.377C>A
NM_001320415.1:c.-62C>A	NP_001307344.1:n.-62C>A
XM_011536773.3:c.213C>A	XP_011535075.1:p.Ile71=
XM_017021312.2:c.-62C>A	XP_016876801.1:n.-62C>A
XM_017021313.1:c.-62C>A	XP_016876802.1:n.-62C>A
XR_001750326.2:n.376C>A
XR_001750327.2:n.376C>A
XR_002957553.1:n.406C>A
XR_943450.3:n.415C>A
XR_943451.3:n.415C>A
XR_943452.3:n.376C>A
NM_001320415.2:c.-62C>A	NP_001307344.1:n.-62C>A
NM_002382.5:c.213C>A MANE Select	NP_002373.3:p.Ile71=
NM_145112.3:c.186C>A	NP_660087.1:p.Ile62=
NM_145113.3:c.213C>A	NP_660088.1:p.Ile71=
NM_001271069.2:c.144+15713C>A	NP_001257998.1:n.144+15713C>A
NM_197957.4:c.171+15713C>A	NP_932061.1:n.171+15713C>A