Canonical Allele Identifier: CA7232801

Gene: MAX

Linked Data

• ClinVar Variation Id: 412780
• ClinVar RCV Id: RCV000469113 ; RCV000574049 ; RCV003960043
• dbSNP Id: rs370238588
• ExAC: 14:65543302 G / A
• gnomAD v2: 14-65543302-G-A
• gnomAD v3: 14-65076584-G-A
• gnomAD v4: 14-65076584-G-A
• MyVariant Identifiers: chr14:g.65543302G>A (hg19) ; chr14:g.65076584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076584G>A , CM000676.2:g.65076584G>A	GRCh38
NC_000014.8:g.65543302G>A , CM000676.1:g.65543302G>A	GRCh37
NC_000014.7:g.64613055G>A	NCBI36
NG_029830.1:g.30926C>T , LRG_530:g.30926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.156C>T	ENSP00000452206.2:p.Asn52=
ENST00000556979.6:c.*828C>T	ENSP00000452378.1:n.*828C>T
ENST00000358664.9:c.375C>T MANE Select	ENSP00000351490.4:p.Asn125=
ENST00000651648.1:c.145-6215C>T	ENSP00000498863.1:n.145-6215C>T
ENST00000284165.10:c.*1219C>T	ENSP00000284165.6:n.*1219C>T
ENST00000341653.6:c.171+17124C>T	ENSP00000342482.2:n.171+17124C>T
ENST00000358402.8:c.348C>T	ENSP00000351175.4:p.Asn116=
ENST00000358664.8:c.375C>T	ENSP00000351490.4:p.Asn125=
ENST00000394606.6:c.*148C>T	ENSP00000378104.2:n.*148C>T
ENST00000553928.5:c.*164C>T	ENSP00000451907.1:n.*164C>T
ENST00000555419.5:c.267C>T	ENSP00000452405.1:p.Asn89=
ENST00000555932.5:c.116C>T	ENSP00000450763.1:p.Thr39Met
ENST00000557277.5:c.186C>T	ENSP00000450955.1:p.Asn62=
ENST00000618858.4:c.*164C>T	ENSP00000480127.1:n.*164C>T
NM_001271069.1:c.144+17124C>T	NP_001257998.1:n.144+17124C>T
NM_002382.4:c.375C>T	NP_002373.3:p.Asn125=
NM_145112.2:c.348C>T	NP_660087.1:p.Asn116=
NM_145113.2:c.*164C>T	NP_660088.1:n.*164C>T
NM_197957.3:c.171+17124C>T	NP_932061.1:n.171+17124C>T
NR_073137.1:n.499C>T
XR_429315.2:n.662C>T
XR_943450.1:n.743C>T
XR_943451.1:n.759C>T
XR_943452.1:n.705C>T
NM_001320415.1:c.186C>T	NP_001307344.1:p.Asn62=
XM_017021312.2:c.186C>T	XP_016876801.1:p.Asn62=
XM_017021313.1:c.186C>T	XP_016876802.1:p.Asn62=
XR_001750326.2:n.720C>T
XR_001750327.2:n.639C>T
XR_002957553.1:n.1153C>T
XR_943450.3:n.743C>T
XR_943451.3:n.759C>T
XR_943452.3:n.704C>T
NM_001320415.2:c.186C>T	NP_001307344.1:p.Asn62=
NM_002382.5:c.375C>T MANE Select	NP_002373.3:p.Asn125=
NM_145112.3:c.348C>T	NP_660087.1:p.Asn116=
NM_145113.3:c.*164C>T	NP_660088.1:n.*164C>T
NM_001271069.2:c.144+17124C>T	NP_001257998.1:n.144+17124C>T
NM_197957.4:c.171+17124C>T	NP_932061.1:n.171+17124C>T