Canonical Allele Identifier: CA390031220

Gene: MAX

Linked Data

• ClinVar Variation Id: 2453895
• ClinVar RCV Id: RCV003188030
• MyVariant Identifiers: chr14:g.65543223T>C (hg19) ; chr14:g.65076505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076505T>C , CM000676.2:g.65076505T>C	GRCh38
NC_000014.8:g.65543223T>C , CM000676.1:g.65543223T>C	GRCh37
NC_000014.7:g.64612976T>C	NCBI36
NG_029830.1:g.31005A>G , LRG_530:g.31005A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.235A>G	ENSP00000452206.2:p.Arg79Gly
ENST00000556979.6:c.*907A>G	ENSP00000452378.1:n.*907A>G
ENST00000358664.9:c.454A>G MANE Select	ENSP00000351490.4:p.Arg152Gly
ENST00000651648.1:c.145-6136A>G	ENSP00000498863.1:n.145-6136A>G
ENST00000284165.10:c.*1298A>G	ENSP00000284165.6:n.*1298A>G
ENST00000341653.6:c.171+17203A>G	ENSP00000342482.2:n.171+17203A>G
ENST00000358402.8:c.427A>G	ENSP00000351175.4:p.Arg143Gly
ENST00000358664.8:c.454A>G	ENSP00000351490.4:p.Arg152Gly
ENST00000394606.6:c.*227A>G	ENSP00000378104.2:n.*227A>G
ENST00000553928.5:c.*243A>G	ENSP00000451907.1:n.*243A>G
ENST00000555419.5:c.346A>G	ENSP00000452405.1:p.Arg116Gly
ENST00000555932.5:c.195A>G	ENSP00000450763.1:p.Ala65=
ENST00000557277.5:c.265A>G	ENSP00000450955.1:p.Arg89Gly
ENST00000618858.4:c.*243A>G	ENSP00000480127.1:n.*243A>G
NM_001271069.1:c.144+17203A>G	NP_001257998.1:n.144+17203A>G
NM_002382.4:c.454A>G	NP_002373.3:p.Arg152Gly
NM_145112.2:c.427A>G	NP_660087.1:p.Arg143Gly
NM_145113.2:c.*243A>G	NP_660088.1:n.*243A>G
NM_197957.3:c.171+17203A>G	NP_932061.1:n.171+17203A>G
NR_073137.1:n.578A>G
XR_429315.2:n.741A>G
NM_001320415.1:c.265A>G	NP_001307344.1:p.Arg89Gly
XM_017021312.2:c.265A>G	XP_016876801.1:p.Arg89Gly
XM_017021313.1:c.265A>G	XP_016876802.1:p.Arg89Gly
XR_001750326.2:n.799A>G
XR_001750327.2:n.718A>G
XR_002957553.1:n.1232A>G
XR_943450.3:n.822A>G
XR_943451.3:n.838A>G
XR_943452.3:n.783A>G
NM_001320415.2:c.265A>G	NP_001307344.1:p.Arg89Gly
NM_002382.5:c.454A>G MANE Select	NP_002373.3:p.Arg152Gly
NM_145112.3:c.427A>G	NP_660087.1:p.Arg143Gly
NM_145113.3:c.*243A>G	NP_660088.1:n.*243A>G
NM_001271069.2:c.144+17203A>G	NP_001257998.1:n.144+17203A>G
NM_197957.4:c.171+17203A>G	NP_932061.1:n.171+17203A>G