Canonical Allele Identifier: CA390031716

Gene: MAX

Linked Data

• ClinVar Variation Id: 1608120
• ClinVar RCV Id: RCV002145096 ; RCV002352866
• dbSNP Id: rs2139740643
• MyVariant Identifiers: chr14:g.65543299G>A (hg19) ; chr14:g.65076581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076581G>A , CM000676.2:g.65076581G>A	GRCh38
NC_000014.8:g.65543299G>A , CM000676.1:g.65543299G>A	GRCh37
NC_000014.7:g.64613052G>A	NCBI36
NG_029830.1:g.30929C>T , LRG_530:g.30929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.159C>T	ENSP00000452206.2:p.Ala53=
ENST00000556979.6:c.*831C>T	ENSP00000452378.1:n.*831C>T
ENST00000358664.9:c.378C>T MANE Select	ENSP00000351490.4:p.Ala126=
ENST00000651648.1:c.145-6212C>T	ENSP00000498863.1:n.145-6212C>T
ENST00000284165.10:c.*1222C>T	ENSP00000284165.6:n.*1222C>T
ENST00000341653.6:c.171+17127C>T	ENSP00000342482.2:n.171+17127C>T
ENST00000358402.8:c.351C>T	ENSP00000351175.4:p.Ala117=
ENST00000358664.8:c.378C>T	ENSP00000351490.4:p.Ala126=
ENST00000394606.6:c.*151C>T	ENSP00000378104.2:n.*151C>T
ENST00000553928.5:c.*167C>T	ENSP00000451907.1:n.*167C>T
ENST00000555419.5:c.270C>T	ENSP00000452405.1:p.Ala90=
ENST00000555932.5:c.119C>T	ENSP00000450763.1:p.Pro40Leu
ENST00000557277.5:c.189C>T	ENSP00000450955.1:p.Ala63=
ENST00000618858.4:c.*167C>T	ENSP00000480127.1:n.*167C>T
NM_001271069.1:c.144+17127C>T	NP_001257998.1:n.144+17127C>T
NM_002382.4:c.378C>T	NP_002373.3:p.Ala126=
NM_145112.2:c.351C>T	NP_660087.1:p.Ala117=
NM_145113.2:c.*167C>T	NP_660088.1:n.*167C>T
NM_197957.3:c.171+17127C>T	NP_932061.1:n.171+17127C>T
NR_073137.1:n.502C>T
XR_429315.2:n.665C>T
XR_943450.1:n.746C>T
XR_943451.1:n.762C>T
XR_943452.1:n.708C>T
NM_001320415.1:c.189C>T	NP_001307344.1:p.Ala63=
XM_017021312.2:c.189C>T	XP_016876801.1:p.Ala63=
XM_017021313.1:c.189C>T	XP_016876802.1:p.Ala63=
XR_001750326.2:n.723C>T
XR_001750327.2:n.642C>T
XR_002957553.1:n.1156C>T
XR_943450.3:n.746C>T
XR_943451.3:n.762C>T
XR_943452.3:n.707C>T
NM_001320415.2:c.189C>T	NP_001307344.1:p.Ala63=
NM_002382.5:c.378C>T MANE Select	NP_002373.3:p.Ala126=
NM_145112.3:c.351C>T	NP_660087.1:p.Ala117=
NM_145113.3:c.*167C>T	NP_660088.1:n.*167C>T
NM_001271069.2:c.144+17127C>T	NP_001257998.1:n.144+17127C>T
NM_197957.4:c.171+17127C>T	NP_932061.1:n.171+17127C>T