Canonical Allele Identifier: CA390031232

Gene: MAX

Linked Data

• ClinVar Variation Id: 1366073
• ClinVar RCV Id: RCV001930033
• dbSNP Id: rs2139739378
• MyVariant Identifiers: chr14:g.65543225C>T (hg19) ; chr14:g.65076507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076507C>T , CM000676.2:g.65076507C>T	GRCh38
NC_000014.8:g.65543225C>T , CM000676.1:g.65543225C>T	GRCh37
NC_000014.7:g.64612978C>T	NCBI36
NG_029830.1:g.31003G>A , LRG_530:g.31003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.233G>A	ENSP00000452206.2:p.Ser78Asn
ENST00000556979.6:c.*905G>A	ENSP00000452378.1:n.*905G>A
ENST00000358664.9:c.452G>A MANE Select	ENSP00000351490.4:p.Ser151Asn
ENST00000651648.1:c.145-6138G>A	ENSP00000498863.1:n.145-6138G>A
ENST00000284165.10:c.*1296G>A	ENSP00000284165.6:n.*1296G>A
ENST00000341653.6:c.171+17201G>A	ENSP00000342482.2:n.171+17201G>A
ENST00000358402.8:c.425G>A	ENSP00000351175.4:p.Ser142Asn
ENST00000358664.8:c.452G>A	ENSP00000351490.4:p.Ser151Asn
ENST00000394606.6:c.*225G>A	ENSP00000378104.2:n.*225G>A
ENST00000553928.5:c.*241G>A	ENSP00000451907.1:n.*241G>A
ENST00000555419.5:c.344G>A	ENSP00000452405.1:p.Ser115Asn
ENST00000555932.5:c.193G>A	ENSP00000450763.1:p.Ala65Thr
ENST00000557277.5:c.263G>A	ENSP00000450955.1:p.Ser88Asn
ENST00000618858.4:c.*241G>A	ENSP00000480127.1:n.*241G>A
NM_001271069.1:c.144+17201G>A	NP_001257998.1:n.144+17201G>A
NM_002382.4:c.452G>A	NP_002373.3:p.Ser151Asn
NM_145112.2:c.425G>A	NP_660087.1:p.Ser142Asn
NM_145113.2:c.*241G>A	NP_660088.1:n.*241G>A
NM_197957.3:c.171+17201G>A	NP_932061.1:n.171+17201G>A
NR_073137.1:n.576G>A
XR_429315.2:n.739G>A
NM_001320415.1:c.263G>A	NP_001307344.1:p.Ser88Asn
XM_017021312.2:c.263G>A	XP_016876801.1:p.Ser88Asn
XM_017021313.1:c.263G>A	XP_016876802.1:p.Ser88Asn
XR_001750326.2:n.797G>A
XR_001750327.2:n.716G>A
XR_002957553.1:n.1230G>A
XR_943450.3:n.820G>A
XR_943451.3:n.836G>A
XR_943452.3:n.781G>A
NM_001320415.2:c.263G>A	NP_001307344.1:p.Ser88Asn
NM_002382.5:c.452G>A MANE Select	NP_002373.3:p.Ser151Asn
NM_145112.3:c.425G>A	NP_660087.1:p.Ser142Asn
NM_145113.3:c.*241G>A	NP_660088.1:n.*241G>A
NM_001271069.2:c.144+17201G>A	NP_001257998.1:n.144+17201G>A
NM_197957.4:c.171+17201G>A	NP_932061.1:n.171+17201G>A