Canonical Allele Identifier: CA262717088

Gene: MAX

Linked Data

• ClinVar Variation Id: 1518007
• ClinVar RCV Id: RCV002021439 ; RCV002324495 ; RCV003475296
• dbSNP Id: rs140490467
• gnomAD v3: 14-65076553-C-G
• gnomAD v4: 14-65076553-C-G
• MyVariant Identifiers: chr14:g.65543271C>G (hg19) ; chr14:g.65076553C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076553C>G , CM000676.2:g.65076553C>G	GRCh38
NC_000014.8:g.65543271C>G , CM000676.1:g.65543271C>G	GRCh37
NC_000014.7:g.64613024C>G	NCBI36
NG_029830.1:g.30957G>C , LRG_530:g.30957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.187G>C	ENSP00000452206.2:p.Gly63Arg
ENST00000556979.6:c.*859G>C	ENSP00000452378.1:n.*859G>C
ENST00000358664.9:c.406G>C MANE Select	ENSP00000351490.4:p.Gly136Arg
ENST00000651648.1:c.145-6184G>C	ENSP00000498863.1:n.145-6184G>C
ENST00000284165.10:c.*1250G>C	ENSP00000284165.6:n.*1250G>C
ENST00000341653.6:c.171+17155G>C	ENSP00000342482.2:n.171+17155G>C
ENST00000358402.8:c.379G>C	ENSP00000351175.4:p.Gly127Arg
ENST00000358664.8:c.406G>C	ENSP00000351490.4:p.Gly136Arg
ENST00000394606.6:c.*179G>C	ENSP00000378104.2:n.*179G>C
ENST00000553928.5:c.*195G>C	ENSP00000451907.1:n.*195G>C
ENST00000555419.5:c.298G>C	ENSP00000452405.1:p.Gly100Arg
ENST00000555932.5:c.147G>C	ENSP00000450763.1:p.Met49Ile
ENST00000557277.5:c.217G>C	ENSP00000450955.1:p.Gly73Arg
ENST00000618858.4:c.*195G>C	ENSP00000480127.1:n.*195G>C
NM_001271069.1:c.144+17155G>C	NP_001257998.1:n.144+17155G>C
NM_002382.4:c.406G>C	NP_002373.3:p.Gly136Arg
NM_145112.2:c.379G>C	NP_660087.1:p.Gly127Arg
NM_145113.2:c.*195G>C	NP_660088.1:n.*195G>C
NM_197957.3:c.171+17155G>C	NP_932061.1:n.171+17155G>C
NR_073137.1:n.530G>C
XR_429315.2:n.693G>C
NM_001320415.1:c.217G>C	NP_001307344.1:p.Gly73Arg
XM_017021312.2:c.217G>C	XP_016876801.1:p.Gly73Arg
XM_017021313.1:c.217G>C	XP_016876802.1:p.Gly73Arg
XR_001750326.2:n.751G>C
XR_001750327.2:n.670G>C
XR_002957553.1:n.1184G>C
XR_943450.3:n.774G>C
XR_943451.3:n.790G>C
XR_943452.3:n.735G>C
NM_001320415.2:c.217G>C	NP_001307344.1:p.Gly73Arg
NM_002382.5:c.406G>C MANE Select	NP_002373.3:p.Gly136Arg
NM_145112.3:c.379G>C	NP_660087.1:p.Gly127Arg
NM_145113.3:c.*195G>C	NP_660088.1:n.*195G>C
NM_001271069.2:c.144+17155G>C	NP_001257998.1:n.144+17155G>C
NM_197957.4:c.171+17155G>C	NP_932061.1:n.171+17155G>C