Canonical Allele Identifier: CA262717096

Gene: MAX

Linked Data

• dbSNP Id: rs762809
• MyVariant Identifiers: chr14:g.65543284G>A (hg19) ; chr14:g.65076566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076566G>A , CM000676.2:g.65076566G>A	GRCh38
NC_000014.8:g.65543284G>A , CM000676.1:g.65543284G>A	GRCh37
NC_000014.7:g.64613037G>A	NCBI36
NG_029830.1:g.30944C>T , LRG_530:g.30944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.174C>T	ENSP00000452206.2:p.Ile58=
ENST00000556979.6:c.*846C>T	ENSP00000452378.1:n.*846C>T
ENST00000358664.9:c.393C>T MANE Select	ENSP00000351490.4:p.Ile131=
ENST00000651648.1:c.145-6197C>T	ENSP00000498863.1:n.145-6197C>T
ENST00000284165.10:c.*1237C>T	ENSP00000284165.6:n.*1237C>T
ENST00000341653.6:c.171+17142C>T	ENSP00000342482.2:n.171+17142C>T
ENST00000358402.8:c.366C>T	ENSP00000351175.4:p.Ile122=
ENST00000358664.8:c.393C>T	ENSP00000351490.4:p.Ile131=
ENST00000394606.6:c.*166C>T	ENSP00000378104.2:n.*166C>T
ENST00000553928.5:c.*182C>T	ENSP00000451907.1:n.*182C>T
ENST00000555419.5:c.285C>T	ENSP00000452405.1:p.Ile95=
ENST00000555932.5:c.134C>T	ENSP00000450763.1:p.Ser45Phe
ENST00000557277.5:c.204C>T	ENSP00000450955.1:p.Ile68=
ENST00000618858.4:c.*182C>T	ENSP00000480127.1:n.*182C>T
NM_001271069.1:c.144+17142C>T	NP_001257998.1:n.144+17142C>T
NM_002382.4:c.393C>T	NP_002373.3:p.Ile131=
NM_145112.2:c.366C>T	NP_660087.1:p.Ile122=
NM_145113.2:c.*182C>T	NP_660088.1:n.*182C>T
NM_197957.3:c.171+17142C>T	NP_932061.1:n.171+17142C>T
NR_073137.1:n.517C>T
XR_429315.2:n.680C>T
NM_001320415.1:c.204C>T	NP_001307344.1:p.Ile68=
XM_017021312.2:c.204C>T	XP_016876801.1:p.Ile68=
XM_017021313.1:c.204C>T	XP_016876802.1:p.Ile68=
XR_001750326.2:n.738C>T
XR_001750327.2:n.657C>T
XR_002957553.1:n.1171C>T
XR_943450.3:n.761C>T
XR_943451.3:n.777C>T
XR_943452.3:n.722C>T
NM_001320415.2:c.204C>T	NP_001307344.1:p.Ile68=
NM_002382.5:c.393C>T MANE Select	NP_002373.3:p.Ile131=
NM_145112.3:c.366C>T	NP_660087.1:p.Ile122=
NM_145113.3:c.*182C>T	NP_660088.1:n.*182C>T
NM_001271069.2:c.144+17142C>T	NP_001257998.1:n.144+17142C>T
NM_197957.4:c.171+17142C>T	NP_932061.1:n.171+17142C>T