Canonical Allele Identifier: CA390031836

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543333T>A (hg19) ; chr14:g.65076615T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076615T>A , CM000676.2:g.65076615T>A	GRCh38
NC_000014.8:g.65543333T>A , CM000676.1:g.65543333T>A	GRCh37
NC_000014.7:g.64613086T>A	NCBI36
NG_029830.1:g.30895A>T , LRG_530:g.30895A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.125A>T	ENSP00000452206.2:p.Tyr42Phe
ENST00000556979.6:c.*797A>T	ENSP00000452378.1:n.*797A>T
ENST00000358664.9:c.344A>T MANE Select	ENSP00000351490.4:p.Tyr115Phe
ENST00000651648.1:c.145-6246A>T	ENSP00000498863.1:n.145-6246A>T
ENST00000284165.10:c.*1188A>T	ENSP00000284165.6:n.*1188A>T
ENST00000341653.6:c.171+17093A>T	ENSP00000342482.2:n.171+17093A>T
ENST00000358402.8:c.317A>T	ENSP00000351175.4:p.Tyr106Phe
ENST00000358664.8:c.344A>T	ENSP00000351490.4:p.Tyr115Phe
ENST00000394606.6:c.*117A>T	ENSP00000378104.2:n.*117A>T
ENST00000553928.5:c.*133A>T	ENSP00000451907.1:n.*133A>T
ENST00000555419.5:c.236A>T	ENSP00000452405.1:p.Tyr79Phe
ENST00000555932.5:c.85A>T	ENSP00000450763.1:p.Thr29Ser
ENST00000556892.5:c.125A>T	ENSP00000452206.1:p.Tyr42Phe
ENST00000557277.5:c.155A>T	ENSP00000450955.1:p.Tyr52Phe
ENST00000618858.4:c.*133A>T	ENSP00000480127.1:n.*133A>T
NM_001271069.1:c.144+17093A>T	NP_001257998.1:n.144+17093A>T
NM_002382.4:c.344A>T	NP_002373.3:p.Tyr115Phe
NM_145112.2:c.317A>T	NP_660087.1:p.Tyr106Phe
NM_145113.2:c.*133A>T	NP_660088.1:n.*133A>T
NM_197957.3:c.171+17093A>T	NP_932061.1:n.171+17093A>T
NR_073137.1:n.468A>T
XR_429315.2:n.631A>T
XR_943450.1:n.712A>T
XR_943451.1:n.728A>T
XR_943452.1:n.674A>T
NM_001320415.1:c.155A>T	NP_001307344.1:p.Tyr52Phe
XM_017021312.2:c.155A>T	XP_016876801.1:p.Tyr52Phe
XM_017021313.1:c.155A>T	XP_016876802.1:p.Tyr52Phe
XR_001750326.2:n.689A>T
XR_001750327.2:n.608A>T
XR_002957553.1:n.1122A>T
XR_943450.3:n.712A>T
XR_943451.3:n.728A>T
XR_943452.3:n.673A>T
NM_001320415.2:c.155A>T	NP_001307344.1:p.Tyr52Phe
NM_002382.5:c.344A>T MANE Select	NP_002373.3:p.Tyr115Phe
NM_145112.3:c.317A>T	NP_660087.1:p.Tyr106Phe
NM_145113.3:c.*133A>T	NP_660088.1:n.*133A>T
NM_001271069.2:c.144+17093A>T	NP_001257998.1:n.144+17093A>T
NM_197957.4:c.171+17093A>T	NP_932061.1:n.171+17093A>T