Canonical Allele Identifier: CA390031036

Gene: MAX

Linked Data

• ClinVar Variation Id: 1743165
• ClinVar RCV Id: RCV002330731
• dbSNP Id: rs2063058337
• MyVariant Identifiers: chr14:g.65543198C>A (hg19) ; chr14:g.65076480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076480C>A , CM000676.2:g.65076480C>A	GRCh38
NC_000014.8:g.65543198C>A , CM000676.1:g.65543198C>A	GRCh37
NC_000014.7:g.64612951C>A	NCBI36
NG_029830.1:g.31030G>T , LRG_530:g.31030G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.260G>T	ENSP00000452206.2:p.Ser87Ile
ENST00000556979.6:c.*932G>T	ENSP00000452378.1:n.*932G>T
ENST00000358664.9:c.479G>T MANE Select	ENSP00000351490.4:p.Ser160Ile
ENST00000651648.1:c.145-6111G>T	ENSP00000498863.1:n.145-6111G>T
ENST00000284165.10:c.*1323G>T	ENSP00000284165.6:n.*1323G>T
ENST00000341653.6:c.171+17228G>T	ENSP00000342482.2:n.171+17228G>T
ENST00000358402.8:c.452G>T	ENSP00000351175.4:p.Ser151Ile
ENST00000358664.8:c.479G>T	ENSP00000351490.4:p.Ser160Ile
ENST00000394606.6:c.*252G>T	ENSP00000378104.2:n.*252G>T
ENST00000553928.5:c.*268G>T	ENSP00000451907.1:n.*268G>T
ENST00000555419.5:c.371G>T	ENSP00000452405.1:p.Ser124Ile
ENST00000555932.5:c.220G>T	ENSP00000450763.1:p.Ala74Ser
ENST00000557277.5:c.290G>T	ENSP00000450955.1:p.Ser97Ile
ENST00000618858.4:c.*268G>T	ENSP00000480127.1:n.*268G>T
NM_001271069.1:c.144+17228G>T	NP_001257998.1:n.144+17228G>T
NM_002382.4:c.479G>T	NP_002373.3:p.Ser160Ile
NM_145112.2:c.452G>T	NP_660087.1:p.Ser151Ile
NM_145113.2:c.*268G>T	NP_660088.1:n.*268G>T
NM_197957.3:c.171+17228G>T	NP_932061.1:n.171+17228G>T
NR_073137.1:n.603G>T
XR_429315.2:n.766G>T
NM_001320415.1:c.290G>T	NP_001307344.1:p.Ser97Ile
XM_017021312.2:c.290G>T	XP_016876801.1:p.Ser97Ile
XM_017021313.1:c.290G>T	XP_016876802.1:p.Ser97Ile
XR_001750326.2:n.824G>T
XR_001750327.2:n.743G>T
XR_002957553.1:n.1257G>T
XR_943450.3:n.847G>T
XR_943451.3:n.863G>T
XR_943452.3:n.808G>T
NM_001320415.2:c.290G>T	NP_001307344.1:p.Ser97Ile
NM_002382.5:c.479G>T MANE Select	NP_002373.3:p.Ser160Ile
NM_145112.3:c.452G>T	NP_660087.1:p.Ser151Ile
NM_145113.3:c.*268G>T	NP_660088.1:n.*268G>T
NM_001271069.2:c.144+17228G>T	NP_001257998.1:n.144+17228G>T
NM_197957.4:c.171+17228G>T	NP_932061.1:n.171+17228G>T