Canonical Allele Identifier: CA390031785

Gene: MAX

Linked Data

• gnomAD v4: 14-65076597-C-T
• MyVariant Identifiers: chr14:g.65543315C>T (hg19) ; chr14:g.65076597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076597C>T , CM000676.2:g.65076597C>T	GRCh38
NC_000014.8:g.65543315C>T , CM000676.1:g.65543315C>T	GRCh37
NC_000014.7:g.64613068C>T	NCBI36
NG_029830.1:g.30913G>A , LRG_530:g.30913G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.143G>A	ENSP00000452206.2:p.Ser48Asn
ENST00000556979.6:c.*815G>A	ENSP00000452378.1:n.*815G>A
ENST00000358664.9:c.362G>A MANE Select	ENSP00000351490.4:p.Ser121Asn
ENST00000651648.1:c.145-6228G>A	ENSP00000498863.1:n.145-6228G>A
ENST00000284165.10:c.*1206G>A	ENSP00000284165.6:n.*1206G>A
ENST00000341653.6:c.171+17111G>A	ENSP00000342482.2:n.171+17111G>A
ENST00000358402.8:c.335G>A	ENSP00000351175.4:p.Ser112Asn
ENST00000358664.8:c.362G>A	ENSP00000351490.4:p.Ser121Asn
ENST00000394606.6:c.*135G>A	ENSP00000378104.2:n.*135G>A
ENST00000553928.5:c.*151G>A	ENSP00000451907.1:n.*151G>A
ENST00000555419.5:c.254G>A	ENSP00000452405.1:p.Ser85Asn
ENST00000555932.5:c.103G>A	ENSP00000450763.1:p.Ala35Thr
ENST00000557277.5:c.173G>A	ENSP00000450955.1:p.Ser58Asn
ENST00000618858.4:c.*151G>A	ENSP00000480127.1:n.*151G>A
NM_001271069.1:c.144+17111G>A	NP_001257998.1:n.144+17111G>A
NM_002382.4:c.362G>A	NP_002373.3:p.Ser121Asn
NM_145112.2:c.335G>A	NP_660087.1:p.Ser112Asn
NM_145113.2:c.*151G>A	NP_660088.1:n.*151G>A
NM_197957.3:c.171+17111G>A	NP_932061.1:n.171+17111G>A
NR_073137.1:n.486G>A
XR_429315.2:n.649G>A
XR_943450.1:n.730G>A
XR_943451.1:n.746G>A
XR_943452.1:n.692G>A
NM_001320415.1:c.173G>A	NP_001307344.1:p.Ser58Asn
XM_017021312.2:c.173G>A	XP_016876801.1:p.Ser58Asn
XM_017021313.1:c.173G>A	XP_016876802.1:p.Ser58Asn
XR_001750326.2:n.707G>A
XR_001750327.2:n.626G>A
XR_002957553.1:n.1140G>A
XR_943450.3:n.730G>A
XR_943451.3:n.746G>A
XR_943452.3:n.691G>A
NM_001320415.2:c.173G>A	NP_001307344.1:p.Ser58Asn
NM_002382.5:c.362G>A MANE Select	NP_002373.3:p.Ser121Asn
NM_145112.3:c.335G>A	NP_660087.1:p.Ser112Asn
NM_145113.3:c.*151G>A	NP_660088.1:n.*151G>A
NM_001271069.2:c.144+17111G>A	NP_001257998.1:n.144+17111G>A
NM_197957.4:c.171+17111G>A	NP_932061.1:n.171+17111G>A