Canonical Allele Identifier: CA390031363

Gene: MAX

Linked Data

• ClinVar Variation Id: 1553360
• ClinVar RCV Id: RCV002187508
• dbSNP Id: rs1485899939
• MyVariant Identifiers: chr14:g.65543245A>C (hg19) ; chr14:g.65076527A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076527A>C , CM000676.2:g.65076527A>C	GRCh38
NC_000014.8:g.65543245A>C , CM000676.1:g.65543245A>C	GRCh37
NC_000014.7:g.64612998A>C	NCBI36
NG_029830.1:g.30983T>G , LRG_530:g.30983T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.213T>G	ENSP00000452206.2:p.Ser71=
ENST00000556979.6:c.*885T>G	ENSP00000452378.1:n.*885T>G
ENST00000358664.9:c.432T>G MANE Select	ENSP00000351490.4:p.Ser144=
ENST00000651648.1:c.145-6158T>G	ENSP00000498863.1:n.145-6158T>G
ENST00000284165.10:c.*1276T>G	ENSP00000284165.6:n.*1276T>G
ENST00000341653.6:c.171+17181T>G	ENSP00000342482.2:n.171+17181T>G
ENST00000358402.8:c.405T>G	ENSP00000351175.4:p.Ser135=
ENST00000358664.8:c.432T>G	ENSP00000351490.4:p.Ser144=
ENST00000394606.6:c.*205T>G	ENSP00000378104.2:n.*205T>G
ENST00000553928.5:c.*221T>G	ENSP00000451907.1:n.*221T>G
ENST00000555419.5:c.324T>G	ENSP00000452405.1:p.Ser108=
ENST00000555932.5:c.173T>G	ENSP00000450763.1:p.Leu58Arg
ENST00000557277.5:c.243T>G	ENSP00000450955.1:p.Ser81=
ENST00000618858.4:c.*221T>G	ENSP00000480127.1:n.*221T>G
NM_001271069.1:c.144+17181T>G	NP_001257998.1:n.144+17181T>G
NM_002382.4:c.432T>G	NP_002373.3:p.Ser144=
NM_145112.2:c.405T>G	NP_660087.1:p.Ser135=
NM_145113.2:c.*221T>G	NP_660088.1:n.*221T>G
NM_197957.3:c.171+17181T>G	NP_932061.1:n.171+17181T>G
NR_073137.1:n.556T>G
XR_429315.2:n.719T>G
NM_001320415.1:c.243T>G	NP_001307344.1:p.Ser81=
XM_017021312.2:c.243T>G	XP_016876801.1:p.Ser81=
XM_017021313.1:c.243T>G	XP_016876802.1:p.Ser81=
XR_001750326.2:n.777T>G
XR_001750327.2:n.696T>G
XR_002957553.1:n.1210T>G
XR_943450.3:n.800T>G
XR_943451.3:n.816T>G
XR_943452.3:n.761T>G
NM_001320415.2:c.243T>G	NP_001307344.1:p.Ser81=
NM_002382.5:c.432T>G MANE Select	NP_002373.3:p.Ser144=
NM_145112.3:c.405T>G	NP_660087.1:p.Ser135=
NM_145113.3:c.*221T>G	NP_660088.1:n.*221T>G
NM_001271069.2:c.144+17181T>G	NP_001257998.1:n.144+17181T>G
NM_197957.4:c.171+17181T>G	NP_932061.1:n.171+17181T>G