Canonical Allele Identifier: CA10635107
Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 313822
ClinVar RCV Id: RCV000362163

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65102419C>T , CM000676.2:g.65102419C>T GRCh38
NC_000014.8:g.65569137C>T , CM000676.1:g.65569137C>T GRCh37
NC_000014.7:g.64638890C>T NCBI36
NG_029830.1:g.5091G>A , LRG_530:g.5091G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000358664.9:c.-80G>A MANE Select ENSP00000351490.4:p.=
ENST00000246163.2:c.-80G>A ENSP00000246163.2:p.=
ENST00000284165.10:c.-80G>A ENSP00000284165.6:p.=
ENST00000358402.8:c.-80G>A ENSP00000351175.4:p.=
ENST00000358664.8:c.-80G>A ENSP00000351490.4:p.=
ENST00000394606.6:c.-80G>A ENSP00000378104.2:p.=
ENST00000554709.1:n.99G>A
ENST00000555667.5:c.-80G>A ENSP00000452286.1:p.=
ENST00000555932.5:c.-80G>A ENSP00000450763.1:p.=
ENST00000556443.5:c.-80G>A ENSP00000450818.1:p.=
ENST00000556702.1:n.60G>A
ENST00000556892.5:c.-157+90G>A ENSP00000452206.1:p.=
ENST00000556979.5:c.-80G>A ENSP00000452378.1:p.=
ENST00000557277.5:c.-239+90G>A ENSP00000450955.1:p.=
ENST00000557746.5:c.-80G>A ENSP00000452197.1:p.=
ENST00000618858.4:c.-80G>A ENSP00000480127.1:p.=
NM_001271068.1:c.-80G>A NP_001257997.1:p.=
NM_001271069.1:c.-80G>A NP_001257998.1:p.=
NM_002382.4:c.-80G>A NP_002373.3:p.=
NM_145112.2:c.-80G>A NP_660087.1:p.=
NM_145113.2:c.-80G>A NP_660088.1:p.=
NM_145114.2:c.-80G>A NP_660089.1:p.=
NM_197957.3:c.-80G>A NP_932061.1:p.=
NR_073137.1:n.187+90G>A
NR_073138.1:n.187+90G>A
XM_011536773.1:c.-80G>A XP_011535075.1:p.=
XR_429315.2:n.123G>A
XR_943450.1:n.123G>A
XR_943451.1:n.123G>A
XR_943452.1:n.112G>A
NM_001320415.1:c.-354G>A NP_001307344.1:p.=
XM_011536773.3:c.-80G>A XP_011535075.1:p.=
XM_017021312.2:c.-327G>A XP_016876801.1:p.=
XR_001750326.2:n.111G>A
XR_001750327.2:n.111G>A
XR_002957553.1:n.114G>A
XR_943450.3:n.123G>A
XR_943451.3:n.123G>A
XR_943452.3:n.111G>A
NM_001320415.2:c.-354G>A NP_001307344.1:p.=
NM_002382.5:c.-80G>A MANE Select NP_002373.3:p.=
NM_145112.3:c.-80G>A NP_660087.1:p.=
NM_145113.3:c.-80G>A NP_660088.1:p.=
NM_001271068.2:c.-80G>A NP_001257997.1:p.=
NM_001271069.2:c.-80G>A NP_001257998.1:p.=
NM_145114.3:c.-80G>A NP_660089.1:p.=
NM_197957.4:c.-80G>A NP_932061.1:p.=