Canonical Allele Identifier: CA390035728

Gene: MAX

Linked Data

• dbSNP Id: rs2063104682
• gnomAD v4: 14-65077982-T-C
• MyVariant Identifiers: chr14:g.65544700T>C (hg19) ; chr14:g.65077982T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077982T>C , CM000676.2:g.65077982T>C	GRCh38
NC_000014.8:g.65544700T>C , CM000676.1:g.65544700T>C	GRCh37
NC_000014.7:g.64614453T>C	NCBI36
NG_029830.1:g.29528A>G , LRG_530:g.29528A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.7A>G	ENSP00000452206.2:p.Arg3Gly
ENST00000556979.6:c.226A>G	ENSP00000452378.1:p.Arg76Gly
ENST00000358664.9:c.226A>G MANE Select	ENSP00000351490.4:p.Arg76Gly
ENST00000651648.1:c.145-7613A>G	ENSP00000498863.1:n.145-7613A>G
ENST00000284165.10:c.226A>G	ENSP00000284165.6:p.Arg76Gly
ENST00000341653.6:c.171+15726A>G	ENSP00000342482.2:n.171+15726A>G
ENST00000358402.8:c.199A>G	ENSP00000351175.4:p.Arg67Gly
ENST00000358664.8:c.226A>G	ENSP00000351490.4:p.Arg76Gly
ENST00000394606.6:c.226A>G	ENSP00000378104.2:p.Arg76Gly
ENST00000553928.5:c.226A>G	ENSP00000451907.1:p.Arg76Gly
ENST00000553951.1:n.303A>G
ENST00000555419.5:c.118A>G	ENSP00000452405.1:p.Arg40Gly
ENST00000555667.5:c.199A>G	ENSP00000452286.1:p.Arg67Gly
ENST00000555932.5:c.37-1319A>G	ENSP00000450763.1:n.37-1319A>G
ENST00000556443.5:c.199A>G	ENSP00000450818.1:p.Arg67Gly
ENST00000556892.5:c.7A>G	ENSP00000452206.1:p.Arg3Gly
ENST00000556979.5:c.226A>G	ENSP00000452378.1:p.Arg76Gly
ENST00000557277.5:c.-49A>G	ENSP00000450955.1:n.-49A>G
ENST00000557746.5:c.199A>G	ENSP00000452197.1:p.Arg67Gly
ENST00000618858.4:c.226A>G	ENSP00000480127.1:p.Arg76Gly
NM_001271069.1:c.144+15726A>G	NP_001257998.1:n.144+15726A>G
NM_002382.4:c.226A>G	NP_002373.3:p.Arg76Gly
NM_145112.2:c.199A>G	NP_660087.1:p.Arg67Gly
NM_145113.2:c.226A>G	NP_660088.1:p.Arg76Gly
NM_197957.3:c.171+15726A>G	NP_932061.1:n.171+15726A>G
NR_073137.1:n.350A>G
XM_011536773.1:c.226A>G	XP_011535075.1:p.Arg76Gly
XR_429315.2:n.428A>G
XR_943450.1:n.428A>G
XR_943451.1:n.428A>G
XR_943452.1:n.390A>G
NM_001320415.1:c.-49A>G	NP_001307344.1:n.-49A>G
XM_011536773.3:c.226A>G	XP_011535075.1:p.Arg76Gly
XM_017021312.2:c.-49A>G	XP_016876801.1:n.-49A>G
XM_017021313.1:c.-49A>G	XP_016876802.1:n.-49A>G
XR_001750326.2:n.389A>G
XR_001750327.2:n.389A>G
XR_002957553.1:n.419A>G
XR_943450.3:n.428A>G
XR_943451.3:n.428A>G
XR_943452.3:n.389A>G
NM_001320415.2:c.-49A>G	NP_001307344.1:n.-49A>G
NM_002382.5:c.226A>G MANE Select	NP_002373.3:p.Arg76Gly
NM_145112.3:c.199A>G	NP_660087.1:p.Arg67Gly
NM_145113.3:c.226A>G	NP_660088.1:p.Arg76Gly
NM_001271069.2:c.144+15726A>G	NP_001257998.1:n.144+15726A>G
NM_197957.4:c.171+15726A>G	NP_932061.1:n.171+15726A>G