Canonical Allele Identifier: CA390031212

Gene: MAX

Linked Data

• gnomAD v4: 14-65076504-C-A
• MyVariant Identifiers: chr14:g.65543222C>A (hg19) ; chr14:g.65076504C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076504C>A , CM000676.2:g.65076504C>A	GRCh38
NC_000014.8:g.65543222C>A , CM000676.1:g.65543222C>A	GRCh37
NC_000014.7:g.64612975C>A	NCBI36
NG_029830.1:g.31006G>T , LRG_530:g.31006G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.236G>T	ENSP00000452206.2:p.Arg79Met
ENST00000556979.6:c.*908G>T	ENSP00000452378.1:n.*908G>T
ENST00000358664.9:c.455G>T MANE Select	ENSP00000351490.4:p.Arg152Met
ENST00000651648.1:c.145-6135G>T	ENSP00000498863.1:n.145-6135G>T
ENST00000284165.10:c.*1299G>T	ENSP00000284165.6:n.*1299G>T
ENST00000341653.6:c.171+17204G>T	ENSP00000342482.2:n.171+17204G>T
ENST00000358402.8:c.428G>T	ENSP00000351175.4:p.Arg143Met
ENST00000358664.8:c.455G>T	ENSP00000351490.4:p.Arg152Met
ENST00000394606.6:c.*228G>T	ENSP00000378104.2:n.*228G>T
ENST00000553928.5:c.*244G>T	ENSP00000451907.1:n.*244G>T
ENST00000555419.5:c.347G>T	ENSP00000452405.1:p.Arg116Met
ENST00000555932.5:c.196G>T	ENSP00000450763.1:p.Gly66Ter
ENST00000557277.5:c.266G>T	ENSP00000450955.1:p.Arg89Met
ENST00000618858.4:c.*244G>T	ENSP00000480127.1:n.*244G>T
NM_001271069.1:c.144+17204G>T	NP_001257998.1:n.144+17204G>T
NM_002382.4:c.455G>T	NP_002373.3:p.Arg152Met
NM_145112.2:c.428G>T	NP_660087.1:p.Arg143Met
NM_145113.2:c.*244G>T	NP_660088.1:n.*244G>T
NM_197957.3:c.171+17204G>T	NP_932061.1:n.171+17204G>T
NR_073137.1:n.579G>T
XR_429315.2:n.742G>T
NM_001320415.1:c.266G>T	NP_001307344.1:p.Arg89Met
XM_017021312.2:c.266G>T	XP_016876801.1:p.Arg89Met
XM_017021313.1:c.266G>T	XP_016876802.1:p.Arg89Met
XR_001750326.2:n.800G>T
XR_001750327.2:n.719G>T
XR_002957553.1:n.1233G>T
XR_943450.3:n.823G>T
XR_943451.3:n.839G>T
XR_943452.3:n.784G>T
NM_001320415.2:c.266G>T	NP_001307344.1:p.Arg89Met
NM_002382.5:c.455G>T MANE Select	NP_002373.3:p.Arg152Met
NM_145112.3:c.428G>T	NP_660087.1:p.Arg143Met
NM_145113.3:c.*244G>T	NP_660088.1:n.*244G>T
NM_001271069.2:c.144+17204G>T	NP_001257998.1:n.144+17204G>T
NM_197957.4:c.171+17204G>T	NP_932061.1:n.171+17204G>T