Canonical Allele Identifier: CA390031868

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543345A>T (hg19) ; chr14:g.65076627A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076627A>T , CM000676.2:g.65076627A>T	GRCh38
NC_000014.8:g.65543345A>T , CM000676.1:g.65543345A>T	GRCh37
NC_000014.7:g.64613098A>T	NCBI36
NG_029830.1:g.30883T>A , LRG_530:g.30883T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.113T>A	ENSP00000452206.2:p.Leu38Gln
ENST00000556979.6:c.*785T>A	ENSP00000452378.1:n.*785T>A
ENST00000358664.9:c.332T>A MANE Select	ENSP00000351490.4:p.Leu111Gln
ENST00000651648.1:c.145-6258T>A	ENSP00000498863.1:n.145-6258T>A
ENST00000284165.10:c.*1176T>A	ENSP00000284165.6:n.*1176T>A
ENST00000341653.6:c.171+17081T>A	ENSP00000342482.2:n.171+17081T>A
ENST00000358402.8:c.305T>A	ENSP00000351175.4:p.Leu102Gln
ENST00000358664.8:c.332T>A	ENSP00000351490.4:p.Leu111Gln
ENST00000394606.6:c.*105T>A	ENSP00000378104.2:n.*105T>A
ENST00000553928.5:c.*121T>A	ENSP00000451907.1:n.*121T>A
ENST00000555419.5:c.224T>A	ENSP00000452405.1:p.Leu75Gln
ENST00000555932.5:c.73T>A	ENSP00000450763.1:p.Cys25Ser
ENST00000556892.5:c.113T>A	ENSP00000452206.1:p.Leu38Gln
ENST00000557277.5:c.143T>A	ENSP00000450955.1:p.Leu48Gln
ENST00000618858.4:c.*121T>A	ENSP00000480127.1:n.*121T>A
NM_001271069.1:c.144+17081T>A	NP_001257998.1:n.144+17081T>A
NM_002382.4:c.332T>A	NP_002373.3:p.Leu111Gln
NM_145112.2:c.305T>A	NP_660087.1:p.Leu102Gln
NM_145113.2:c.*121T>A	NP_660088.1:n.*121T>A
NM_197957.3:c.171+17081T>A	NP_932061.1:n.171+17081T>A
NR_073137.1:n.456T>A
XR_429315.2:n.619T>A
XR_943450.1:n.700T>A
XR_943451.1:n.716T>A
XR_943452.1:n.662T>A
NM_001320415.1:c.143T>A	NP_001307344.1:p.Leu48Gln
XM_017021312.2:c.143T>A	XP_016876801.1:p.Leu48Gln
XM_017021313.1:c.143T>A	XP_016876802.1:p.Leu48Gln
XR_001750326.2:n.677T>A
XR_001750327.2:n.596T>A
XR_002957553.1:n.1110T>A
XR_943450.3:n.700T>A
XR_943451.3:n.716T>A
XR_943452.3:n.661T>A
NM_001320415.2:c.143T>A	NP_001307344.1:p.Leu48Gln
NM_002382.5:c.332T>A MANE Select	NP_002373.3:p.Leu111Gln
NM_145112.3:c.305T>A	NP_660087.1:p.Leu102Gln
NM_145113.3:c.*121T>A	NP_660088.1:n.*121T>A
NM_001271069.2:c.144+17081T>A	NP_001257998.1:n.144+17081T>A
NM_197957.4:c.171+17081T>A	NP_932061.1:n.171+17081T>A