Canonical Allele Identifier: CA390031855

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543341C>A (hg19) ; chr14:g.65076623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076623C>A , CM000676.2:g.65076623C>A	GRCh38
NC_000014.8:g.65543341C>A , CM000676.1:g.65543341C>A	GRCh37
NC_000014.7:g.64613094C>A	NCBI36
NG_029830.1:g.30887G>T , LRG_530:g.30887G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.117G>T	ENSP00000452206.2:p.Gln39His
ENST00000556979.6:c.*789G>T	ENSP00000452378.1:n.*789G>T
ENST00000358664.9:c.336G>T MANE Select	ENSP00000351490.4:p.Gln112His
ENST00000651648.1:c.145-6254G>T	ENSP00000498863.1:n.145-6254G>T
ENST00000284165.10:c.*1180G>T	ENSP00000284165.6:n.*1180G>T
ENST00000341653.6:c.171+17085G>T	ENSP00000342482.2:n.171+17085G>T
ENST00000358402.8:c.309G>T	ENSP00000351175.4:p.Gln103His
ENST00000358664.8:c.336G>T	ENSP00000351490.4:p.Gln112His
ENST00000394606.6:c.*109G>T	ENSP00000378104.2:n.*109G>T
ENST00000553928.5:c.*125G>T	ENSP00000451907.1:n.*125G>T
ENST00000555419.5:c.228G>T	ENSP00000452405.1:p.Gln76His
ENST00000555932.5:c.77G>T	ENSP00000450763.1:p.Arg26Ile
ENST00000556892.5:c.117G>T	ENSP00000452206.1:p.Gln39His
ENST00000557277.5:c.147G>T	ENSP00000450955.1:p.Gln49His
ENST00000618858.4:c.*125G>T	ENSP00000480127.1:n.*125G>T
NM_001271069.1:c.144+17085G>T	NP_001257998.1:n.144+17085G>T
NM_002382.4:c.336G>T	NP_002373.3:p.Gln112His
NM_145112.2:c.309G>T	NP_660087.1:p.Gln103His
NM_145113.2:c.*125G>T	NP_660088.1:n.*125G>T
NM_197957.3:c.171+17085G>T	NP_932061.1:n.171+17085G>T
NR_073137.1:n.460G>T
XR_429315.2:n.623G>T
XR_943450.1:n.704G>T
XR_943451.1:n.720G>T
XR_943452.1:n.666G>T
NM_001320415.1:c.147G>T	NP_001307344.1:p.Gln49His
XM_017021312.2:c.147G>T	XP_016876801.1:p.Gln49His
XM_017021313.1:c.147G>T	XP_016876802.1:p.Gln49His
XR_001750326.2:n.681G>T
XR_001750327.2:n.600G>T
XR_002957553.1:n.1114G>T
XR_943450.3:n.704G>T
XR_943451.3:n.720G>T
XR_943452.3:n.665G>T
NM_001320415.2:c.147G>T	NP_001307344.1:p.Gln49His
NM_002382.5:c.336G>T MANE Select	NP_002373.3:p.Gln112His
NM_145112.3:c.309G>T	NP_660087.1:p.Gln103His
NM_145113.3:c.*125G>T	NP_660088.1:n.*125G>T
NM_001271069.2:c.144+17085G>T	NP_001257998.1:n.144+17085G>T
NM_197957.4:c.171+17085G>T	NP_932061.1:n.171+17085G>T