Canonical Allele Identifier: CA390031450

Gene: MAX

Linked Data

• ClinVar Variation Id: 2097024
• ClinVar RCV Id: RCV003006255
• MyVariant Identifiers: chr14:g.65543263C>G (hg19) ; chr14:g.65076545C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076545C>G , CM000676.2:g.65076545C>G	GRCh38
NC_000014.8:g.65543263C>G , CM000676.1:g.65543263C>G	GRCh37
NC_000014.7:g.64613016C>G	NCBI36
NG_029830.1:g.30965G>C , LRG_530:g.30965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.195G>C	ENSP00000452206.2:p.Ser65=
ENST00000556979.6:c.*867G>C	ENSP00000452378.1:n.*867G>C
ENST00000358664.9:c.414G>C MANE Select	ENSP00000351490.4:p.Ser138=
ENST00000651648.1:c.145-6176G>C	ENSP00000498863.1:n.145-6176G>C
ENST00000284165.10:c.*1258G>C	ENSP00000284165.6:n.*1258G>C
ENST00000341653.6:c.171+17163G>C	ENSP00000342482.2:n.171+17163G>C
ENST00000358402.8:c.387G>C	ENSP00000351175.4:p.Ser129=
ENST00000358664.8:c.414G>C	ENSP00000351490.4:p.Ser138=
ENST00000394606.6:c.*187G>C	ENSP00000378104.2:n.*187G>C
ENST00000553928.5:c.*203G>C	ENSP00000451907.1:n.*203G>C
ENST00000555419.5:c.306G>C	ENSP00000452405.1:p.Ser102=
ENST00000555932.5:c.155G>C	ENSP00000450763.1:p.Arg52Pro
ENST00000557277.5:c.225G>C	ENSP00000450955.1:p.Ser75=
ENST00000618858.4:c.*203G>C	ENSP00000480127.1:n.*203G>C
NM_001271069.1:c.144+17163G>C	NP_001257998.1:n.144+17163G>C
NM_002382.4:c.414G>C	NP_002373.3:p.Ser138=
NM_145112.2:c.387G>C	NP_660087.1:p.Ser129=
NM_145113.2:c.*203G>C	NP_660088.1:n.*203G>C
NM_197957.3:c.171+17163G>C	NP_932061.1:n.171+17163G>C
NR_073137.1:n.538G>C
XR_429315.2:n.701G>C
NM_001320415.1:c.225G>C	NP_001307344.1:p.Ser75=
XM_017021312.2:c.225G>C	XP_016876801.1:p.Ser75=
XM_017021313.1:c.225G>C	XP_016876802.1:p.Ser75=
XR_001750326.2:n.759G>C
XR_001750327.2:n.678G>C
XR_002957553.1:n.1192G>C
XR_943450.3:n.782G>C
XR_943451.3:n.798G>C
XR_943452.3:n.743G>C
NM_001320415.2:c.225G>C	NP_001307344.1:p.Ser75=
NM_002382.5:c.414G>C MANE Select	NP_002373.3:p.Ser138=
NM_145112.3:c.387G>C	NP_660087.1:p.Ser129=
NM_145113.3:c.*203G>C	NP_660088.1:n.*203G>C
NM_001271069.2:c.144+17163G>C	NP_001257998.1:n.144+17163G>C
NM_197957.4:c.171+17163G>C	NP_932061.1:n.171+17163G>C