Canonical Allele Identifier: CA390031777

Gene: MAX

Linked Data

• ClinVar Variation Id: 2447488
• ClinVar RCV Id: RCV003165275
• COSMIC: COSM1607863
• MyVariant Identifiers: chr14:g.65543312A>T (hg19) ; chr14:g.65076594A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076594A>T , CM000676.2:g.65076594A>T	GRCh38
NC_000014.8:g.65543312A>T , CM000676.1:g.65543312A>T	GRCh37
NC_000014.7:g.64613065A>T	NCBI36
NG_029830.1:g.30916T>A , LRG_530:g.30916T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.146T>A	ENSP00000452206.2:p.Leu49His
ENST00000556979.6:c.*818T>A	ENSP00000452378.1:n.*818T>A
ENST00000358664.9:c.365T>A MANE Select	ENSP00000351490.4:p.Leu122His
ENST00000651648.1:c.145-6225T>A	ENSP00000498863.1:n.145-6225T>A
ENST00000284165.10:c.*1209T>A	ENSP00000284165.6:n.*1209T>A
ENST00000341653.6:c.171+17114T>A	ENSP00000342482.2:n.171+17114T>A
ENST00000358402.8:c.338T>A	ENSP00000351175.4:p.Leu113His
ENST00000358664.8:c.365T>A	ENSP00000351490.4:p.Leu122His
ENST00000394606.6:c.*138T>A	ENSP00000378104.2:n.*138T>A
ENST00000553928.5:c.*154T>A	ENSP00000451907.1:n.*154T>A
ENST00000555419.5:c.257T>A	ENSP00000452405.1:p.Leu86His
ENST00000555932.5:c.106T>A	ENSP00000450763.1:p.Ser36Thr
ENST00000557277.5:c.176T>A	ENSP00000450955.1:p.Leu59His
ENST00000618858.4:c.*154T>A	ENSP00000480127.1:n.*154T>A
NM_001271069.1:c.144+17114T>A	NP_001257998.1:n.144+17114T>A
NM_002382.4:c.365T>A	NP_002373.3:p.Leu122His
NM_145112.2:c.338T>A	NP_660087.1:p.Leu113His
NM_145113.2:c.*154T>A	NP_660088.1:n.*154T>A
NM_197957.3:c.171+17114T>A	NP_932061.1:n.171+17114T>A
NR_073137.1:n.489T>A
XR_429315.2:n.652T>A
XR_943450.1:n.733T>A
XR_943451.1:n.749T>A
XR_943452.1:n.695T>A
NM_001320415.1:c.176T>A	NP_001307344.1:p.Leu59His
XM_017021312.2:c.176T>A	XP_016876801.1:p.Leu59His
XM_017021313.1:c.176T>A	XP_016876802.1:p.Leu59His
XR_001750326.2:n.710T>A
XR_001750327.2:n.629T>A
XR_002957553.1:n.1143T>A
XR_943450.3:n.733T>A
XR_943451.3:n.749T>A
XR_943452.3:n.694T>A
NM_001320415.2:c.176T>A	NP_001307344.1:p.Leu59His
NM_002382.5:c.365T>A MANE Select	NP_002373.3:p.Leu122His
NM_145112.3:c.338T>A	NP_660087.1:p.Leu113His
NM_145113.3:c.*154T>A	NP_660088.1:n.*154T>A
NM_001271069.2:c.144+17114T>A	NP_001257998.1:n.144+17114T>A
NM_197957.4:c.171+17114T>A	NP_932061.1:n.171+17114T>A