Canonical Allele Identifier: CA390031797

Gene: MAX

Linked Data

• ClinVar Variation Id: 2453897
• ClinVar RCV Id: RCV003188032
• MyVariant Identifiers: chr14:g.65543319T>A (hg19) ; chr14:g.65076601T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076601T>A , CM000676.2:g.65076601T>A	GRCh38
NC_000014.8:g.65543319T>A , CM000676.1:g.65543319T>A	GRCh37
NC_000014.7:g.64613072T>A	NCBI36
NG_029830.1:g.30909A>T , LRG_530:g.30909A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.139A>T	ENSP00000452206.2:p.Asn47Tyr
ENST00000556979.6:c.*811A>T	ENSP00000452378.1:n.*811A>T
ENST00000358664.9:c.358A>T MANE Select	ENSP00000351490.4:p.Asn120Tyr
ENST00000651648.1:c.145-6232A>T	ENSP00000498863.1:n.145-6232A>T
ENST00000284165.10:c.*1202A>T	ENSP00000284165.6:n.*1202A>T
ENST00000341653.6:c.171+17107A>T	ENSP00000342482.2:n.171+17107A>T
ENST00000358402.8:c.331A>T	ENSP00000351175.4:p.Asn111Tyr
ENST00000358664.8:c.358A>T	ENSP00000351490.4:p.Asn120Tyr
ENST00000394606.6:c.*131A>T	ENSP00000378104.2:n.*131A>T
ENST00000553928.5:c.*147A>T	ENSP00000451907.1:n.*147A>T
ENST00000555419.5:c.250A>T	ENSP00000452405.1:p.Asn84Tyr
ENST00000555932.5:c.99A>T	ENSP00000450763.1:p.Thr33=
ENST00000557277.5:c.169A>T	ENSP00000450955.1:p.Asn57Tyr
ENST00000618858.4:c.*147A>T	ENSP00000480127.1:n.*147A>T
NM_001271069.1:c.144+17107A>T	NP_001257998.1:n.144+17107A>T
NM_002382.4:c.358A>T	NP_002373.3:p.Asn120Tyr
NM_145112.2:c.331A>T	NP_660087.1:p.Asn111Tyr
NM_145113.2:c.*147A>T	NP_660088.1:n.*147A>T
NM_197957.3:c.171+17107A>T	NP_932061.1:n.171+17107A>T
NR_073137.1:n.482A>T
XR_429315.2:n.645A>T
XR_943450.1:n.726A>T
XR_943451.1:n.742A>T
XR_943452.1:n.688A>T
NM_001320415.1:c.169A>T	NP_001307344.1:p.Asn57Tyr
XM_017021312.2:c.169A>T	XP_016876801.1:p.Asn57Tyr
XM_017021313.1:c.169A>T	XP_016876802.1:p.Asn57Tyr
XR_001750326.2:n.703A>T
XR_001750327.2:n.622A>T
XR_002957553.1:n.1136A>T
XR_943450.3:n.726A>T
XR_943451.3:n.742A>T
XR_943452.3:n.687A>T
NM_001320415.2:c.169A>T	NP_001307344.1:p.Asn57Tyr
NM_002382.5:c.358A>T MANE Select	NP_002373.3:p.Asn120Tyr
NM_145112.3:c.331A>T	NP_660087.1:p.Asn111Tyr
NM_145113.3:c.*147A>T	NP_660088.1:n.*147A>T
NM_001271069.2:c.144+17107A>T	NP_001257998.1:n.144+17107A>T
NM_197957.4:c.171+17107A>T	NP_932061.1:n.171+17107A>T