Canonical Allele Identifier: CA7232911

Gene: MAX

Linked Data

• dbSNP Id: rs747081607
• ExAC: 14:65544709 A / G
• gnomAD v2: 14-65544709-A-G
• gnomAD v4: 14-65077991-A-G
• MyVariant Identifiers: chr14:g.65544709A>G (hg19) ; chr14:g.65077991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077991A>G , CM000676.2:g.65077991A>G	GRCh38
NC_000014.8:g.65544709A>G , CM000676.1:g.65544709A>G	GRCh37
NC_000014.7:g.64614462A>G	NCBI36
NG_029830.1:g.29519T>C , LRG_530:g.29519T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.-3T>C	ENSP00000452206.2:n.-3T>C
ENST00000556979.6:c.217T>C	ENSP00000452378.1:p.Tyr73His
ENST00000358664.9:c.217T>C MANE Select	ENSP00000351490.4:p.Tyr73His
ENST00000651648.1:c.145-7622T>C	ENSP00000498863.1:n.145-7622T>C
ENST00000284165.10:c.217T>C	ENSP00000284165.6:p.Tyr73His
ENST00000341653.6:c.171+15717T>C	ENSP00000342482.2:n.171+15717T>C
ENST00000358402.8:c.190T>C	ENSP00000351175.4:p.Tyr64His
ENST00000358664.8:c.217T>C	ENSP00000351490.4:p.Tyr73His
ENST00000394606.6:c.217T>C	ENSP00000378104.2:p.Tyr73His
ENST00000553928.5:c.217T>C	ENSP00000451907.1:p.Tyr73His
ENST00000553951.1:n.294T>C
ENST00000555419.5:c.109T>C	ENSP00000452405.1:p.Tyr37His
ENST00000555667.5:c.190T>C	ENSP00000452286.1:p.Tyr64His
ENST00000555932.5:c.37-1328T>C	ENSP00000450763.1:n.37-1328T>C
ENST00000556443.5:c.190T>C	ENSP00000450818.1:p.Tyr64His
ENST00000556892.5:c.-3T>C	ENSP00000452206.1:n.-3T>C
ENST00000556979.5:c.217T>C	ENSP00000452378.1:p.Tyr73His
ENST00000557277.5:c.-58T>C	ENSP00000450955.1:n.-58T>C
ENST00000557746.5:c.190T>C	ENSP00000452197.1:p.Tyr64His
ENST00000618858.4:c.217T>C	ENSP00000480127.1:p.Tyr73His
NM_001271069.1:c.144+15717T>C	NP_001257998.1:n.144+15717T>C
NM_002382.4:c.217T>C	NP_002373.3:p.Tyr73His
NM_145112.2:c.190T>C	NP_660087.1:p.Tyr64His
NM_145113.2:c.217T>C	NP_660088.1:p.Tyr73His
NM_197957.3:c.171+15717T>C	NP_932061.1:n.171+15717T>C
NR_073137.1:n.341T>C
XM_011536773.1:c.217T>C	XP_011535075.1:p.Tyr73His
XR_429315.2:n.419T>C
XR_943450.1:n.419T>C
XR_943451.1:n.419T>C
XR_943452.1:n.381T>C
NM_001320415.1:c.-58T>C	NP_001307344.1:n.-58T>C
XM_011536773.3:c.217T>C	XP_011535075.1:p.Tyr73His
XM_017021312.2:c.-58T>C	XP_016876801.1:n.-58T>C
XM_017021313.1:c.-58T>C	XP_016876802.1:n.-58T>C
XR_001750326.2:n.380T>C
XR_001750327.2:n.380T>C
XR_002957553.1:n.410T>C
XR_943450.3:n.419T>C
XR_943451.3:n.419T>C
XR_943452.3:n.380T>C
NM_001320415.2:c.-58T>C	NP_001307344.1:n.-58T>C
NM_002382.5:c.217T>C MANE Select	NP_002373.3:p.Tyr73His
NM_145112.3:c.190T>C	NP_660087.1:p.Tyr64His
NM_145113.3:c.217T>C	NP_660088.1:p.Tyr73His
NM_001271069.2:c.144+15717T>C	NP_001257998.1:n.144+15717T>C
NM_197957.4:c.171+15717T>C	NP_932061.1:n.171+15717T>C