Canonical Allele Identifier: CA390031208

Gene: MAX

Linked Data

• ClinVar Variation Id: 1878967
• ClinVar RCV Id: RCV002511468
• gnomAD v4: 14-65076503-C-G
• MyVariant Identifiers: chr14:g.65543221C>G (hg19) ; chr14:g.65076503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076503C>G , CM000676.2:g.65076503C>G	GRCh38
NC_000014.8:g.65543221C>G , CM000676.1:g.65543221C>G	GRCh37
NC_000014.7:g.64612974C>G	NCBI36
NG_029830.1:g.31007G>C , LRG_530:g.31007G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.237G>C	ENSP00000452206.2:p.Arg79Ser
ENST00000556979.6:c.*909G>C	ENSP00000452378.1:n.*909G>C
ENST00000358664.9:c.456G>C MANE Select	ENSP00000351490.4:p.Arg152Ser
ENST00000651648.1:c.145-6134G>C	ENSP00000498863.1:n.145-6134G>C
ENST00000284165.10:c.*1300G>C	ENSP00000284165.6:n.*1300G>C
ENST00000341653.6:c.171+17205G>C	ENSP00000342482.2:n.171+17205G>C
ENST00000358402.8:c.429G>C	ENSP00000351175.4:p.Arg143Ser
ENST00000358664.8:c.456G>C	ENSP00000351490.4:p.Arg152Ser
ENST00000394606.6:c.*229G>C	ENSP00000378104.2:n.*229G>C
ENST00000553928.5:c.*245G>C	ENSP00000451907.1:n.*245G>C
ENST00000555419.5:c.348G>C	ENSP00000452405.1:p.Arg116Ser
ENST00000555932.5:c.197G>C	ENSP00000450763.1:p.Gly66Ala
ENST00000557277.5:c.267G>C	ENSP00000450955.1:p.Arg89Ser
ENST00000618858.4:c.*245G>C	ENSP00000480127.1:n.*245G>C
NM_001271069.1:c.144+17205G>C	NP_001257998.1:n.144+17205G>C
NM_002382.4:c.456G>C	NP_002373.3:p.Arg152Ser
NM_145112.2:c.429G>C	NP_660087.1:p.Arg143Ser
NM_145113.2:c.*245G>C	NP_660088.1:n.*245G>C
NM_197957.3:c.171+17205G>C	NP_932061.1:n.171+17205G>C
NR_073137.1:n.580G>C
XR_429315.2:n.743G>C
NM_001320415.1:c.267G>C	NP_001307344.1:p.Arg89Ser
XM_017021312.2:c.267G>C	XP_016876801.1:p.Arg89Ser
XM_017021313.1:c.267G>C	XP_016876802.1:p.Arg89Ser
XR_001750326.2:n.801G>C
XR_001750327.2:n.720G>C
XR_002957553.1:n.1234G>C
XR_943450.3:n.824G>C
XR_943451.3:n.840G>C
XR_943452.3:n.785G>C
NM_001320415.2:c.267G>C	NP_001307344.1:p.Arg89Ser
NM_002382.5:c.456G>C MANE Select	NP_002373.3:p.Arg152Ser
NM_145112.3:c.429G>C	NP_660087.1:p.Arg143Ser
NM_145113.3:c.*245G>C	NP_660088.1:n.*245G>C
NM_001271069.2:c.144+17205G>C	NP_001257998.1:n.144+17205G>C
NM_197957.4:c.171+17205G>C	NP_932061.1:n.171+17205G>C