Canonical Allele Identifier: CA390031835
Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 1731618
ClinVar RCV Id: RCV002457237
dbSNP Id: rs1414936007

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076614G>A , CM000676.2:g.65076614G>A GRCh38
NC_000014.8:g.65543332G>A , CM000676.1:g.65543332G>A GRCh37
NC_000014.7:g.64613085G>A NCBI36
NG_029830.1:g.30896C>T , LRG_530:g.30896C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.126C>T ENSP00000452206.2:p.Tyr42=
ENST00000556979.6:c.*798C>T ENSP00000452378.1:n.*798C>T
ENST00000358664.9:c.345C>T MANE Select ENSP00000351490.4:p.Tyr115=
ENST00000651648.1:c.145-6245C>T ENSP00000498863.1:n.145-6245C>T
ENST00000284165.10:c.*1189C>T ENSP00000284165.6:n.*1189C>T
ENST00000341653.6:c.171+17094C>T ENSP00000342482.2:n.171+17094C>T
ENST00000358402.8:c.318C>T ENSP00000351175.4:p.Tyr106=
ENST00000358664.8:c.345C>T ENSP00000351490.4:p.Tyr115=
ENST00000394606.6:c.*118C>T ENSP00000378104.2:n.*118C>T
ENST00000553928.5:c.*134C>T ENSP00000451907.1:n.*134C>T
ENST00000555419.5:c.237C>T ENSP00000452405.1:p.Tyr79=
ENST00000555932.5:c.86C>T ENSP00000450763.1:p.Thr29Ile
ENST00000556892.5:c.126C>T ENSP00000452206.1:p.Tyr42=
ENST00000557277.5:c.156C>T ENSP00000450955.1:p.Tyr52=
ENST00000618858.4:c.*134C>T ENSP00000480127.1:n.*134C>T
NM_001271069.1:c.144+17094C>T NP_001257998.1:n.144+17094C>T
NM_002382.4:c.345C>T NP_002373.3:p.Tyr115=
NM_145112.2:c.318C>T NP_660087.1:p.Tyr106=
NM_145113.2:c.*134C>T NP_660088.1:n.*134C>T
NM_197957.3:c.171+17094C>T NP_932061.1:n.171+17094C>T
NR_073137.1:n.469C>T
XR_429315.2:n.632C>T
XR_943450.1:n.713C>T
XR_943451.1:n.729C>T
XR_943452.1:n.675C>T
NM_001320415.1:c.156C>T NP_001307344.1:p.Tyr52=
XM_017021312.2:c.156C>T XP_016876801.1:p.Tyr52=
XM_017021313.1:c.156C>T XP_016876802.1:p.Tyr52=
XR_001750326.2:n.690C>T
XR_001750327.2:n.609C>T
XR_002957553.1:n.1123C>T
XR_943450.3:n.713C>T
XR_943451.3:n.729C>T
XR_943452.3:n.674C>T
NM_001320415.2:c.156C>T NP_001307344.1:p.Tyr52=
NM_002382.5:c.345C>T MANE Select NP_002373.3:p.Tyr115=
NM_145112.3:c.318C>T NP_660087.1:p.Tyr106=
NM_145113.3:c.*134C>T NP_660088.1:n.*134C>T
NM_001271069.2:c.144+17094C>T NP_001257998.1:n.144+17094C>T
NM_197957.4:c.171+17094C>T NP_932061.1:n.171+17094C>T