Canonical Allele Identifier: CA390035803

Gene: MAX

Linked Data

• dbSNP Id: rs2139754832
• gnomAD v4: 14-65077992-C-A
• MyVariant Identifiers: chr14:g.65544710C>A (hg19) ; chr14:g.65077992C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077992C>A , CM000676.2:g.65077992C>A	GRCh38
NC_000014.8:g.65544710C>A , CM000676.1:g.65544710C>A	GRCh37
NC_000014.7:g.64614463C>A	NCBI36
NG_029830.1:g.29518G>T , LRG_530:g.29518G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.-4G>T	ENSP00000452206.2:n.-4G>T
ENST00000556979.6:c.216G>T	ENSP00000452378.1:p.Gln72His
ENST00000358664.9:c.216G>T MANE Select	ENSP00000351490.4:p.Gln72His
ENST00000651648.1:c.145-7623G>T	ENSP00000498863.1:n.145-7623G>T
ENST00000284165.10:c.216G>T	ENSP00000284165.6:p.Gln72His
ENST00000341653.6:c.171+15716G>T	ENSP00000342482.2:n.171+15716G>T
ENST00000358402.8:c.189G>T	ENSP00000351175.4:p.Gln63His
ENST00000358664.8:c.216G>T	ENSP00000351490.4:p.Gln72His
ENST00000394606.6:c.216G>T	ENSP00000378104.2:p.Gln72His
ENST00000553928.5:c.216G>T	ENSP00000451907.1:p.Gln72His
ENST00000553951.1:n.293G>T
ENST00000555419.5:c.108G>T	ENSP00000452405.1:p.Gln36His
ENST00000555667.5:c.189G>T	ENSP00000452286.1:p.Gln63His
ENST00000555932.5:c.37-1329G>T	ENSP00000450763.1:n.37-1329G>T
ENST00000556443.5:c.189G>T	ENSP00000450818.1:p.Gln63His
ENST00000556892.5:c.-4G>T	ENSP00000452206.1:n.-4G>T
ENST00000556979.5:c.216G>T	ENSP00000452378.1:p.Gln72His
ENST00000557277.5:c.-59G>T	ENSP00000450955.1:n.-59G>T
ENST00000557746.5:c.189G>T	ENSP00000452197.1:p.Gln63His
ENST00000618858.4:c.216G>T	ENSP00000480127.1:p.Gln72His
NM_001271069.1:c.144+15716G>T	NP_001257998.1:n.144+15716G>T
NM_002382.4:c.216G>T	NP_002373.3:p.Gln72His
NM_145112.2:c.189G>T	NP_660087.1:p.Gln63His
NM_145113.2:c.216G>T	NP_660088.1:p.Gln72His
NM_197957.3:c.171+15716G>T	NP_932061.1:n.171+15716G>T
NR_073137.1:n.340G>T
XM_011536773.1:c.216G>T	XP_011535075.1:p.Gln72His
XR_429315.2:n.418G>T
XR_943450.1:n.418G>T
XR_943451.1:n.418G>T
XR_943452.1:n.380G>T
NM_001320415.1:c.-59G>T	NP_001307344.1:n.-59G>T
XM_011536773.3:c.216G>T	XP_011535075.1:p.Gln72His
XM_017021312.2:c.-59G>T	XP_016876801.1:n.-59G>T
XM_017021313.1:c.-59G>T	XP_016876802.1:n.-59G>T
XR_001750326.2:n.379G>T
XR_001750327.2:n.379G>T
XR_002957553.1:n.409G>T
XR_943450.3:n.418G>T
XR_943451.3:n.418G>T
XR_943452.3:n.379G>T
NM_001320415.2:c.-59G>T	NP_001307344.1:n.-59G>T
NM_002382.5:c.216G>T MANE Select	NP_002373.3:p.Gln72His
NM_145112.3:c.189G>T	NP_660087.1:p.Gln63His
NM_145113.3:c.216G>T	NP_660088.1:p.Gln72His
NM_001271069.2:c.144+15716G>T	NP_001257998.1:n.144+15716G>T
NM_197957.4:c.171+15716G>T	NP_932061.1:n.171+15716G>T