Canonical Allele Identifier: CA10640663

Gene: MAX

Linked Data

• ClinVar Variation Id: 313825
• ClinVar RCV Id: RCV000358794
• dbSNP Id: rs570017996
• gnomAD v2: 14-65569156-C-T
• gnomAD v3: 14-65102438-C-T
• gnomAD v4: 14-65102438-C-T
• MyVariant Identifiers: chr14:g.65569156C>T (hg19) ; chr14:g.65102438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65102438C>T , CM000676.2:g.65102438C>T	GRCh38
NC_000014.8:g.65569156C>T , CM000676.1:g.65569156C>T	GRCh37
NC_000014.7:g.64638909C>T	NCBI36
NG_029830.1:g.5072G>A , LRG_530:g.5072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.-157+71G>A	ENSP00000452206.2:n.-157+71G>A
ENST00000556979.6:c.-99G>A	ENSP00000452378.1:n.-99G>A
ENST00000358664.9:c.-99G>A MANE Select	ENSP00000351490.4:n.-99G>A
ENST00000246163.2:c.-99G>A	ENSP00000246163.2:n.-99G>A
ENST00000284165.10:c.-99G>A	ENSP00000284165.6:n.-99G>A
ENST00000358402.8:c.-99G>A	ENSP00000351175.4:n.-99G>A
ENST00000358664.8:c.-99G>A	ENSP00000351490.4:n.-99G>A
ENST00000394606.6:c.-99G>A	ENSP00000378104.2:n.-99G>A
ENST00000554709.1:n.80G>A
ENST00000555667.5:c.-99G>A	ENSP00000452286.1:n.-99G>A
ENST00000555932.5:c.-99G>A	ENSP00000450763.1:n.-99G>A
ENST00000556443.5:c.-99G>A	ENSP00000450818.1:n.-99G>A
ENST00000556702.1:n.41G>A
ENST00000556892.5:c.-157+71G>A	ENSP00000452206.1:n.-157+71G>A
ENST00000556979.5:c.-99G>A	ENSP00000452378.1:n.-99G>A
ENST00000557277.5:c.-239+71G>A	ENSP00000450955.1:n.-239+71G>A
ENST00000557746.5:c.-99G>A	ENSP00000452197.1:n.-99G>A
ENST00000618858.4:c.-99G>A	ENSP00000480127.1:n.-99G>A
NM_001271068.1:c.-99G>A	NP_001257997.1:n.-99G>A
NM_001271069.1:c.-99G>A	NP_001257998.1:n.-99G>A
NM_002382.4:c.-99G>A	NP_002373.3:n.-99G>A
NM_145112.2:c.-99G>A	NP_660087.1:n.-99G>A
NM_145113.2:c.-99G>A	NP_660088.1:n.-99G>A
NM_145114.2:c.-99G>A	NP_660089.1:n.-99G>A
NM_197957.3:c.-99G>A	NP_932061.1:n.-99G>A
NR_073137.1:n.187+71G>A
NR_073138.1:n.187+71G>A
XM_011536773.1:c.-99G>A	XP_011535075.1:n.-99G>A
XR_429315.2:n.104G>A
XR_943450.1:n.104G>A
XR_943451.1:n.104G>A
XR_943452.1:n.93G>A
NM_001320415.1:c.-373G>A	NP_001307344.1:n.-373G>A
XM_011536773.3:c.-99G>A	XP_011535075.1:n.-99G>A
XM_017021312.2:c.-346G>A	XP_016876801.1:n.-346G>A
XR_001750326.2:n.92G>A
XR_001750327.2:n.92G>A
XR_002957553.1:n.95G>A
XR_943450.3:n.104G>A
XR_943451.3:n.104G>A
XR_943452.3:n.92G>A
NM_001320415.2:c.-373G>A	NP_001307344.1:n.-373G>A
NM_002382.5:c.-99G>A MANE Select	NP_002373.3:n.-99G>A
NM_145112.3:c.-99G>A	NP_660087.1:n.-99G>A
NM_145113.3:c.-99G>A	NP_660088.1:n.-99G>A
NM_001271068.2:c.-99G>A	NP_001257997.1:n.-99G>A
NM_001271069.2:c.-99G>A	NP_001257998.1:n.-99G>A
NM_145114.3:c.-99G>A	NP_660089.1:n.-99G>A
NM_197957.4:c.-99G>A	NP_932061.1:n.-99G>A