Canonical Allele Identifier: CA390035805

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65544711T>A (hg19) ; chr14:g.65077993T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077993T>A , CM000676.2:g.65077993T>A	GRCh38
NC_000014.8:g.65544711T>A , CM000676.1:g.65544711T>A	GRCh37
NC_000014.7:g.64614464T>A	NCBI36
NG_029830.1:g.29517A>T , LRG_530:g.29517A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.-5A>T	ENSP00000452206.2:n.-5A>T
ENST00000556979.6:c.215A>T	ENSP00000452378.1:p.Gln72Leu
ENST00000358664.9:c.215A>T MANE Select	ENSP00000351490.4:p.Gln72Leu
ENST00000651648.1:c.145-7624A>T	ENSP00000498863.1:n.145-7624A>T
ENST00000284165.10:c.215A>T	ENSP00000284165.6:p.Gln72Leu
ENST00000341653.6:c.171+15715A>T	ENSP00000342482.2:n.171+15715A>T
ENST00000358402.8:c.188A>T	ENSP00000351175.4:p.Gln63Leu
ENST00000358664.8:c.215A>T	ENSP00000351490.4:p.Gln72Leu
ENST00000394606.6:c.215A>T	ENSP00000378104.2:p.Gln72Leu
ENST00000553928.5:c.215A>T	ENSP00000451907.1:p.Gln72Leu
ENST00000553951.1:n.292A>T
ENST00000555419.5:c.107A>T	ENSP00000452405.1:p.Gln36Leu
ENST00000555667.5:c.188A>T	ENSP00000452286.1:p.Gln63Leu
ENST00000555932.5:c.37-1330A>T	ENSP00000450763.1:n.37-1330A>T
ENST00000556443.5:c.188A>T	ENSP00000450818.1:p.Gln63Leu
ENST00000556892.5:c.-5A>T	ENSP00000452206.1:n.-5A>T
ENST00000556979.5:c.215A>T	ENSP00000452378.1:p.Gln72Leu
ENST00000557277.5:c.-60A>T	ENSP00000450955.1:n.-60A>T
ENST00000557746.5:c.188A>T	ENSP00000452197.1:p.Gln63Leu
ENST00000618858.4:c.215A>T	ENSP00000480127.1:p.Gln72Leu
NM_001271069.1:c.144+15715A>T	NP_001257998.1:n.144+15715A>T
NM_002382.4:c.215A>T	NP_002373.3:p.Gln72Leu
NM_145112.2:c.188A>T	NP_660087.1:p.Gln63Leu
NM_145113.2:c.215A>T	NP_660088.1:p.Gln72Leu
NM_197957.3:c.171+15715A>T	NP_932061.1:n.171+15715A>T
NR_073137.1:n.339A>T
XM_011536773.1:c.215A>T	XP_011535075.1:p.Gln72Leu
XR_429315.2:n.417A>T
XR_943450.1:n.417A>T
XR_943451.1:n.417A>T
XR_943452.1:n.379A>T
NM_001320415.1:c.-60A>T	NP_001307344.1:n.-60A>T
XM_011536773.3:c.215A>T	XP_011535075.1:p.Gln72Leu
XM_017021312.2:c.-60A>T	XP_016876801.1:n.-60A>T
XM_017021313.1:c.-60A>T	XP_016876802.1:n.-60A>T
XR_001750326.2:n.378A>T
XR_001750327.2:n.378A>T
XR_002957553.1:n.408A>T
XR_943450.3:n.417A>T
XR_943451.3:n.417A>T
XR_943452.3:n.378A>T
NM_001320415.2:c.-60A>T	NP_001307344.1:n.-60A>T
NM_002382.5:c.215A>T MANE Select	NP_002373.3:p.Gln72Leu
NM_145112.3:c.188A>T	NP_660087.1:p.Gln63Leu
NM_145113.3:c.215A>T	NP_660088.1:p.Gln72Leu
NM_001271069.2:c.144+15715A>T	NP_001257998.1:n.144+15715A>T
NM_197957.4:c.171+15715A>T	NP_932061.1:n.171+15715A>T