Canonical Allele Identifier: CA390031806

Gene: MAX

Linked Data

• ClinVar Variation Id: 3015166
• ClinVar RCV Id: RCV003870773
• COSMIC: COSM4051907
• MyVariant Identifiers: chr14:g.65543322C>T (hg19) ; chr14:g.65076604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076604C>T , CM000676.2:g.65076604C>T	GRCh38
NC_000014.8:g.65543322C>T , CM000676.1:g.65543322C>T	GRCh37
NC_000014.7:g.64613075C>T	NCBI36
NG_029830.1:g.30906G>A , LRG_530:g.30906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.136G>A	ENSP00000452206.2:p.Asp46Asn
ENST00000556979.6:c.*808G>A	ENSP00000452378.1:n.*808G>A
ENST00000358664.9:c.355G>A MANE Select	ENSP00000351490.4:p.Asp119Asn
ENST00000651648.1:c.145-6235G>A	ENSP00000498863.1:n.145-6235G>A
ENST00000284165.10:c.*1199G>A	ENSP00000284165.6:n.*1199G>A
ENST00000341653.6:c.171+17104G>A	ENSP00000342482.2:n.171+17104G>A
ENST00000358402.8:c.328G>A	ENSP00000351175.4:p.Asp110Asn
ENST00000358664.8:c.355G>A	ENSP00000351490.4:p.Asp119Asn
ENST00000394606.6:c.*128G>A	ENSP00000378104.2:n.*128G>A
ENST00000553928.5:c.*144G>A	ENSP00000451907.1:n.*144G>A
ENST00000555419.5:c.247G>A	ENSP00000452405.1:p.Asp83Asn
ENST00000555932.5:c.96G>A	ENSP00000450763.1:p.Gln32=
ENST00000557277.5:c.166G>A	ENSP00000450955.1:p.Asp56Asn
ENST00000618858.4:c.*144G>A	ENSP00000480127.1:n.*144G>A
NM_001271069.1:c.144+17104G>A	NP_001257998.1:n.144+17104G>A
NM_002382.4:c.355G>A	NP_002373.3:p.Asp119Asn
NM_145112.2:c.328G>A	NP_660087.1:p.Asp110Asn
NM_145113.2:c.*144G>A	NP_660088.1:n.*144G>A
NM_197957.3:c.171+17104G>A	NP_932061.1:n.171+17104G>A
NR_073137.1:n.479G>A
XR_429315.2:n.642G>A
XR_943450.1:n.723G>A
XR_943451.1:n.739G>A
XR_943452.1:n.685G>A
NM_001320415.1:c.166G>A	NP_001307344.1:p.Asp56Asn
XM_017021312.2:c.166G>A	XP_016876801.1:p.Asp56Asn
XM_017021313.1:c.166G>A	XP_016876802.1:p.Asp56Asn
XR_001750326.2:n.700G>A
XR_001750327.2:n.619G>A
XR_002957553.1:n.1133G>A
XR_943450.3:n.723G>A
XR_943451.3:n.739G>A
XR_943452.3:n.684G>A
NM_001320415.2:c.166G>A	NP_001307344.1:p.Asp56Asn
NM_002382.5:c.355G>A MANE Select	NP_002373.3:p.Asp119Asn
NM_145112.3:c.328G>A	NP_660087.1:p.Asp110Asn
NM_145113.3:c.*144G>A	NP_660088.1:n.*144G>A
NM_001271069.2:c.144+17104G>A	NP_001257998.1:n.144+17104G>A
NM_197957.4:c.171+17104G>A	NP_932061.1:n.171+17104G>A