Canonical Allele Identifier: CA390031728
Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 841737
ClinVar RCV Id: RCV001044019
dbSNP Id: rs779789251

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076583C>A , CM000676.2:g.65076583C>A GRCh38
NC_000014.8:g.65543301C>A , CM000676.1:g.65543301C>A GRCh37
NC_000014.7:g.64613054C>A NCBI36
NG_029830.1:g.30927G>T , LRG_530:g.30927G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.157G>T ENSP00000452206.2:p.Ala53Ser
ENST00000556979.6:c.*829G>T ENSP00000452378.1:n.*829G>T
ENST00000358664.9:c.376G>T MANE Select ENSP00000351490.4:p.Ala126Ser
ENST00000651648.1:c.145-6214G>T ENSP00000498863.1:n.145-6214G>T
ENST00000284165.10:c.*1220G>T ENSP00000284165.6:n.*1220G>T
ENST00000341653.6:c.171+17125G>T ENSP00000342482.2:n.171+17125G>T
ENST00000358402.8:c.349G>T ENSP00000351175.4:p.Ala117Ser
ENST00000358664.8:c.376G>T ENSP00000351490.4:p.Ala126Ser
ENST00000394606.6:c.*149G>T ENSP00000378104.2:n.*149G>T
ENST00000553928.5:c.*165G>T ENSP00000451907.1:n.*165G>T
ENST00000555419.5:c.268G>T ENSP00000452405.1:p.Ala90Ser
ENST00000555932.5:c.117G>T ENSP00000450763.1:p.Thr39=
ENST00000557277.5:c.187G>T ENSP00000450955.1:p.Ala63Ser
ENST00000618858.4:c.*165G>T ENSP00000480127.1:n.*165G>T
NM_001271069.1:c.144+17125G>T NP_001257998.1:n.144+17125G>T
NM_002382.4:c.376G>T NP_002373.3:p.Ala126Ser
NM_145112.2:c.349G>T NP_660087.1:p.Ala117Ser
NM_145113.2:c.*165G>T NP_660088.1:n.*165G>T
NM_197957.3:c.171+17125G>T NP_932061.1:n.171+17125G>T
NR_073137.1:n.500G>T
XR_429315.2:n.663G>T
XR_943450.1:n.744G>T
XR_943451.1:n.760G>T
XR_943452.1:n.706G>T
NM_001320415.1:c.187G>T NP_001307344.1:p.Ala63Ser
XM_017021312.2:c.187G>T XP_016876801.1:p.Ala63Ser
XM_017021313.1:c.187G>T XP_016876802.1:p.Ala63Ser
XR_001750326.2:n.721G>T
XR_001750327.2:n.640G>T
XR_002957553.1:n.1154G>T
XR_943450.3:n.744G>T
XR_943451.3:n.760G>T
XR_943452.3:n.705G>T
NM_001320415.2:c.187G>T NP_001307344.1:p.Ala63Ser
NM_002382.5:c.376G>T MANE Select NP_002373.3:p.Ala126Ser
NM_145112.3:c.349G>T NP_660087.1:p.Ala117Ser
NM_145113.3:c.*165G>T NP_660088.1:n.*165G>T
NM_001271069.2:c.144+17125G>T NP_001257998.1:n.144+17125G>T
NM_197957.4:c.171+17125G>T NP_932061.1:n.171+17125G>T