Canonical Allele Identifier: CA390031325

Gene: MAX

Linked Data

• ClinVar Variation Id: 2103464
• ClinVar RCV Id: RCV003022161
• dbSNP Id: rs1259526031
• MyVariant Identifiers: chr14:g.65543239A>T (hg19) ; chr14:g.65076521A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076521A>T , CM000676.2:g.65076521A>T	GRCh38
NC_000014.8:g.65543239A>T , CM000676.1:g.65543239A>T	GRCh37
NC_000014.7:g.64612992A>T	NCBI36
NG_029830.1:g.30989T>A , LRG_530:g.30989T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.219T>A	ENSP00000452206.2:p.Pro73=
ENST00000556979.6:c.*891T>A	ENSP00000452378.1:n.*891T>A
ENST00000358664.9:c.438T>A MANE Select	ENSP00000351490.4:p.Pro146=
ENST00000651648.1:c.145-6152T>A	ENSP00000498863.1:n.145-6152T>A
ENST00000284165.10:c.*1282T>A	ENSP00000284165.6:n.*1282T>A
ENST00000341653.6:c.171+17187T>A	ENSP00000342482.2:n.171+17187T>A
ENST00000358402.8:c.411T>A	ENSP00000351175.4:p.Pro137=
ENST00000358664.8:c.438T>A	ENSP00000351490.4:p.Pro146=
ENST00000394606.6:c.*211T>A	ENSP00000378104.2:n.*211T>A
ENST00000553928.5:c.*227T>A	ENSP00000451907.1:n.*227T>A
ENST00000555419.5:c.330T>A	ENSP00000452405.1:p.Pro110=
ENST00000555932.5:c.179T>A	ENSP00000450763.1:p.Leu60Gln
ENST00000557277.5:c.249T>A	ENSP00000450955.1:p.Pro83=
ENST00000618858.4:c.*227T>A	ENSP00000480127.1:n.*227T>A
NM_001271069.1:c.144+17187T>A	NP_001257998.1:n.144+17187T>A
NM_002382.4:c.438T>A	NP_002373.3:p.Pro146=
NM_145112.2:c.411T>A	NP_660087.1:p.Pro137=
NM_145113.2:c.*227T>A	NP_660088.1:n.*227T>A
NM_197957.3:c.171+17187T>A	NP_932061.1:n.171+17187T>A
NR_073137.1:n.562T>A
XR_429315.2:n.725T>A
NM_001320415.1:c.249T>A	NP_001307344.1:p.Pro83=
XM_017021312.2:c.249T>A	XP_016876801.1:p.Pro83=
XM_017021313.1:c.249T>A	XP_016876802.1:p.Pro83=
XR_001750326.2:n.783T>A
XR_001750327.2:n.702T>A
XR_002957553.1:n.1216T>A
XR_943450.3:n.806T>A
XR_943451.3:n.822T>A
XR_943452.3:n.767T>A
NM_001320415.2:c.249T>A	NP_001307344.1:p.Pro83=
NM_002382.5:c.438T>A MANE Select	NP_002373.3:p.Pro146=
NM_145112.3:c.411T>A	NP_660087.1:p.Pro137=
NM_145113.3:c.*227T>A	NP_660088.1:n.*227T>A
NM_001271069.2:c.144+17187T>A	NP_001257998.1:n.144+17187T>A
NM_197957.4:c.171+17187T>A	NP_932061.1:n.171+17187T>A