Canonical Allele Identifier: CA390031798

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543320G>A (hg19) ; chr14:g.65076602G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076602G>A , CM000676.2:g.65076602G>A	GRCh38
NC_000014.8:g.65543320G>A , CM000676.1:g.65543320G>A	GRCh37
NC_000014.7:g.64613073G>A	NCBI36
NG_029830.1:g.30908C>T , LRG_530:g.30908C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.138C>T	ENSP00000452206.2:p.Asp46=
ENST00000556979.6:c.*810C>T	ENSP00000452378.1:n.*810C>T
ENST00000358664.9:c.357C>T MANE Select	ENSP00000351490.4:p.Asp119=
ENST00000651648.1:c.145-6233C>T	ENSP00000498863.1:n.145-6233C>T
ENST00000284165.10:c.*1201C>T	ENSP00000284165.6:n.*1201C>T
ENST00000341653.6:c.171+17106C>T	ENSP00000342482.2:n.171+17106C>T
ENST00000358402.8:c.330C>T	ENSP00000351175.4:p.Asp110=
ENST00000358664.8:c.357C>T	ENSP00000351490.4:p.Asp119=
ENST00000394606.6:c.*130C>T	ENSP00000378104.2:n.*130C>T
ENST00000553928.5:c.*146C>T	ENSP00000451907.1:n.*146C>T
ENST00000555419.5:c.249C>T	ENSP00000452405.1:p.Asp83=
ENST00000555932.5:c.98C>T	ENSP00000450763.1:p.Thr33Ile
ENST00000557277.5:c.168C>T	ENSP00000450955.1:p.Asp56=
ENST00000618858.4:c.*146C>T	ENSP00000480127.1:n.*146C>T
NM_001271069.1:c.144+17106C>T	NP_001257998.1:n.144+17106C>T
NM_002382.4:c.357C>T	NP_002373.3:p.Asp119=
NM_145112.2:c.330C>T	NP_660087.1:p.Asp110=
NM_145113.2:c.*146C>T	NP_660088.1:n.*146C>T
NM_197957.3:c.171+17106C>T	NP_932061.1:n.171+17106C>T
NR_073137.1:n.481C>T
XR_429315.2:n.644C>T
XR_943450.1:n.725C>T
XR_943451.1:n.741C>T
XR_943452.1:n.687C>T
NM_001320415.1:c.168C>T	NP_001307344.1:p.Asp56=
XM_017021312.2:c.168C>T	XP_016876801.1:p.Asp56=
XM_017021313.1:c.168C>T	XP_016876802.1:p.Asp56=
XR_001750326.2:n.702C>T
XR_001750327.2:n.621C>T
XR_002957553.1:n.1135C>T
XR_943450.3:n.725C>T
XR_943451.3:n.741C>T
XR_943452.3:n.686C>T
NM_001320415.2:c.168C>T	NP_001307344.1:p.Asp56=
NM_002382.5:c.357C>T MANE Select	NP_002373.3:p.Asp119=
NM_145112.3:c.330C>T	NP_660087.1:p.Asp110=
NM_145113.3:c.*146C>T	NP_660088.1:n.*146C>T
NM_001271069.2:c.144+17106C>T	NP_001257998.1:n.144+17106C>T
NM_197957.4:c.171+17106C>T	NP_932061.1:n.171+17106C>T