Canonical Allele Identifier: CA390031794

Gene: MAX

Linked Data

• ClinVar Variation Id: 463807
• ClinVar RCV Id: RCV000539272 ; RCV000565694
• dbSNP Id: rs80206158
• gnomAD v4: 14-65076600-T-C
• MyVariant Identifiers: chr14:g.65543318T>C (hg19) ; chr14:g.65076600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076600T>C , CM000676.2:g.65076600T>C	GRCh38
NC_000014.8:g.65543318T>C , CM000676.1:g.65543318T>C	GRCh37
NC_000014.7:g.64613071T>C	NCBI36
NG_029830.1:g.30910A>G , LRG_530:g.30910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.140A>G	ENSP00000452206.2:p.Asn47Ser
ENST00000556979.6:c.*812A>G	ENSP00000452378.1:n.*812A>G
ENST00000358664.9:c.359A>G MANE Select	ENSP00000351490.4:p.Asn120Ser
ENST00000651648.1:c.145-6231A>G	ENSP00000498863.1:n.145-6231A>G
ENST00000284165.10:c.*1203A>G	ENSP00000284165.6:n.*1203A>G
ENST00000341653.6:c.171+17108A>G	ENSP00000342482.2:n.171+17108A>G
ENST00000358402.8:c.332A>G	ENSP00000351175.4:p.Asn111Ser
ENST00000358664.8:c.359A>G	ENSP00000351490.4:p.Asn120Ser
ENST00000394606.6:c.*132A>G	ENSP00000378104.2:n.*132A>G
ENST00000553928.5:c.*148A>G	ENSP00000451907.1:n.*148A>G
ENST00000555419.5:c.251A>G	ENSP00000452405.1:p.Asn84Ser
ENST00000555932.5:c.100A>G	ENSP00000450763.1:p.Thr34Ala
ENST00000557277.5:c.170A>G	ENSP00000450955.1:p.Asn57Ser
ENST00000618858.4:c.*148A>G	ENSP00000480127.1:n.*148A>G
NM_001271069.1:c.144+17108A>G	NP_001257998.1:n.144+17108A>G
NM_002382.4:c.359A>G	NP_002373.3:p.Asn120Ser
NM_145112.2:c.332A>G	NP_660087.1:p.Asn111Ser
NM_145113.2:c.*148A>G	NP_660088.1:n.*148A>G
NM_197957.3:c.171+17108A>G	NP_932061.1:n.171+17108A>G
NR_073137.1:n.483A>G
XR_429315.2:n.646A>G
XR_943450.1:n.727A>G
XR_943451.1:n.743A>G
XR_943452.1:n.689A>G
NM_001320415.1:c.170A>G	NP_001307344.1:p.Asn57Ser
XM_017021312.2:c.170A>G	XP_016876801.1:p.Asn57Ser
XM_017021313.1:c.170A>G	XP_016876802.1:p.Asn57Ser
XR_001750326.2:n.704A>G
XR_001750327.2:n.623A>G
XR_002957553.1:n.1137A>G
XR_943450.3:n.727A>G
XR_943451.3:n.743A>G
XR_943452.3:n.688A>G
NM_001320415.2:c.170A>G	NP_001307344.1:p.Asn57Ser
NM_002382.5:c.359A>G MANE Select	NP_002373.3:p.Asn120Ser
NM_145112.3:c.332A>G	NP_660087.1:p.Asn111Ser
NM_145113.3:c.*148A>G	NP_660088.1:n.*148A>G
NM_001271069.2:c.144+17108A>G	NP_001257998.1:n.144+17108A>G
NM_197957.4:c.171+17108A>G	NP_932061.1:n.171+17108A>G