Canonical Allele Identifier: CA390035790

Gene: MAX

Linked Data

• ClinVar Variation Id: 941831
• ClinVar RCV Id: RCV001211690
• dbSNP Id: rs2063105092
• gnomAD v4: 14-65077990-T-C
• MyVariant Identifiers: chr14:g.65544708T>C (hg19) ; chr14:g.65077990T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077990T>C , CM000676.2:g.65077990T>C	GRCh38
NC_000014.8:g.65544708T>C , CM000676.1:g.65544708T>C	GRCh37
NC_000014.7:g.64614461T>C	NCBI36
NG_029830.1:g.29520A>G , LRG_530:g.29520A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.-2A>G	ENSP00000452206.2:n.-2A>G
ENST00000556979.6:c.218A>G	ENSP00000452378.1:p.Tyr73Cys
ENST00000358664.9:c.218A>G MANE Select	ENSP00000351490.4:p.Tyr73Cys
ENST00000651648.1:c.145-7621A>G	ENSP00000498863.1:n.145-7621A>G
ENST00000284165.10:c.218A>G	ENSP00000284165.6:p.Tyr73Cys
ENST00000341653.6:c.171+15718A>G	ENSP00000342482.2:n.171+15718A>G
ENST00000358402.8:c.191A>G	ENSP00000351175.4:p.Tyr64Cys
ENST00000358664.8:c.218A>G	ENSP00000351490.4:p.Tyr73Cys
ENST00000394606.6:c.218A>G	ENSP00000378104.2:p.Tyr73Cys
ENST00000553928.5:c.218A>G	ENSP00000451907.1:p.Tyr73Cys
ENST00000553951.1:n.295A>G
ENST00000555419.5:c.110A>G	ENSP00000452405.1:p.Tyr37Cys
ENST00000555667.5:c.191A>G	ENSP00000452286.1:p.Tyr64Cys
ENST00000555932.5:c.37-1327A>G	ENSP00000450763.1:n.37-1327A>G
ENST00000556443.5:c.191A>G	ENSP00000450818.1:p.Tyr64Cys
ENST00000556892.5:c.-2A>G	ENSP00000452206.1:n.-2A>G
ENST00000556979.5:c.218A>G	ENSP00000452378.1:p.Tyr73Cys
ENST00000557277.5:c.-57A>G	ENSP00000450955.1:n.-57A>G
ENST00000557746.5:c.191A>G	ENSP00000452197.1:p.Tyr64Cys
ENST00000618858.4:c.218A>G	ENSP00000480127.1:p.Tyr73Cys
NM_001271069.1:c.144+15718A>G	NP_001257998.1:n.144+15718A>G
NM_002382.4:c.218A>G	NP_002373.3:p.Tyr73Cys
NM_145112.2:c.191A>G	NP_660087.1:p.Tyr64Cys
NM_145113.2:c.218A>G	NP_660088.1:p.Tyr73Cys
NM_197957.3:c.171+15718A>G	NP_932061.1:n.171+15718A>G
NR_073137.1:n.342A>G
XM_011536773.1:c.218A>G	XP_011535075.1:p.Tyr73Cys
XR_429315.2:n.420A>G
XR_943450.1:n.420A>G
XR_943451.1:n.420A>G
XR_943452.1:n.382A>G
NM_001320415.1:c.-57A>G	NP_001307344.1:n.-57A>G
XM_011536773.3:c.218A>G	XP_011535075.1:p.Tyr73Cys
XM_017021312.2:c.-57A>G	XP_016876801.1:n.-57A>G
XM_017021313.1:c.-57A>G	XP_016876802.1:n.-57A>G
XR_001750326.2:n.381A>G
XR_001750327.2:n.381A>G
XR_002957553.1:n.411A>G
XR_943450.3:n.420A>G
XR_943451.3:n.420A>G
XR_943452.3:n.381A>G
NM_001320415.2:c.-57A>G	NP_001307344.1:n.-57A>G
NM_002382.5:c.218A>G MANE Select	NP_002373.3:p.Tyr73Cys
NM_145112.3:c.191A>G	NP_660087.1:p.Tyr64Cys
NM_145113.3:c.218A>G	NP_660088.1:p.Tyr73Cys
NM_001271069.2:c.144+15718A>G	NP_001257998.1:n.144+15718A>G
NM_197957.4:c.171+15718A>G	NP_932061.1:n.171+15718A>G