Canonical Allele Identifier: CA10579867
Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 232198
ClinVar RCV Id: RCV000222188
dbSNP Id: rs876659610

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65077996A>T , CM000676.2:g.65077996A>T GRCh38
NC_000014.8:g.65544714A>T , CM000676.1:g.65544714A>T GRCh37
NC_000014.7:g.64614467A>T NCBI36
NG_029830.1:g.29514T>A , LRG_530:g.29514T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000556892.6:c.-8T>A ENSP00000452206.2:n.-8T>A
ENST00000556979.6:c.212T>A ENSP00000452378.1:p.Ile71Asn
ENST00000358664.9:c.212T>A MANE Select ENSP00000351490.4:p.Ile71Asn
ENST00000651648.1:c.145-7627T>A ENSP00000498863.1:n.145-7627T>A
ENST00000284165.10:c.212T>A ENSP00000284165.6:p.Ile71Asn
ENST00000341653.6:c.171+15712T>A ENSP00000342482.2:n.171+15712T>A
ENST00000358402.8:c.185T>A ENSP00000351175.4:p.Ile62Asn
ENST00000358664.8:c.212T>A ENSP00000351490.4:p.Ile71Asn
ENST00000394606.6:c.212T>A ENSP00000378104.2:p.Ile71Asn
ENST00000553928.5:c.212T>A ENSP00000451907.1:p.Ile71Asn
ENST00000553951.1:n.289T>A
ENST00000555419.5:c.104T>A ENSP00000452405.1:p.Ile35Asn
ENST00000555667.5:c.185T>A ENSP00000452286.1:p.Ile62Asn
ENST00000555932.5:c.37-1333T>A ENSP00000450763.1:n.37-1333T>A
ENST00000556443.5:c.185T>A ENSP00000450818.1:p.Ile62Asn
ENST00000556892.5:c.-8T>A ENSP00000452206.1:n.-8T>A
ENST00000556979.5:c.212T>A ENSP00000452378.1:p.Ile71Asn
ENST00000557277.5:c.-63T>A ENSP00000450955.1:n.-63T>A
ENST00000557746.5:c.185T>A ENSP00000452197.1:p.Ile62Asn
ENST00000618858.4:c.212T>A ENSP00000480127.1:p.Ile71Asn
NM_001271069.1:c.144+15712T>A NP_001257998.1:n.144+15712T>A
NM_002382.4:c.212T>A NP_002373.3:p.Ile71Asn
NM_145112.2:c.185T>A NP_660087.1:p.Ile62Asn
NM_145113.2:c.212T>A NP_660088.1:p.Ile71Asn
NM_197957.3:c.171+15712T>A NP_932061.1:n.171+15712T>A
NR_073137.1:n.336T>A
XM_011536773.1:c.212T>A XP_011535075.1:p.Ile71Asn
XR_429315.2:n.414T>A
XR_943450.1:n.414T>A
XR_943451.1:n.414T>A
XR_943452.1:n.376T>A
NM_001320415.1:c.-63T>A NP_001307344.1:n.-63T>A
XM_011536773.3:c.212T>A XP_011535075.1:p.Ile71Asn
XM_017021312.2:c.-63T>A XP_016876801.1:n.-63T>A
XM_017021313.1:c.-63T>A XP_016876802.1:n.-63T>A
XR_001750326.2:n.375T>A
XR_001750327.2:n.375T>A
XR_002957553.1:n.405T>A
XR_943450.3:n.414T>A
XR_943451.3:n.414T>A
XR_943452.3:n.375T>A
NM_001320415.2:c.-63T>A NP_001307344.1:n.-63T>A
NM_002382.5:c.212T>A MANE Select NP_002373.3:p.Ile71Asn
NM_145112.3:c.185T>A NP_660087.1:p.Ile62Asn
NM_145113.3:c.212T>A NP_660088.1:p.Ile71Asn
NM_001271069.2:c.144+15712T>A NP_001257998.1:n.144+15712T>A
NM_197957.4:c.171+15712T>A NP_932061.1:n.171+15712T>A