Canonical Allele Identifier: CA390031763

Gene: MAX

Linked Data

• ClinVar Variation Id: 1641756
• ClinVar RCV Id: RCV002140319 ; RCV002346505
• dbSNP Id: rs2063063134
• gnomAD v4: 14-65076590-G-A
• MyVariant Identifiers: chr14:g.65543308G>A (hg19) ; chr14:g.65076590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076590G>A , CM000676.2:g.65076590G>A	GRCh38
NC_000014.8:g.65543308G>A , CM000676.1:g.65543308G>A	GRCh37
NC_000014.7:g.64613061G>A	NCBI36
NG_029830.1:g.30920C>T , LRG_530:g.30920C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.150C>T	ENSP00000452206.2:p.Tyr50=
ENST00000556979.6:c.*822C>T	ENSP00000452378.1:n.*822C>T
ENST00000358664.9:c.369C>T MANE Select	ENSP00000351490.4:p.Tyr123=
ENST00000651648.1:c.145-6221C>T	ENSP00000498863.1:n.145-6221C>T
ENST00000284165.10:c.*1213C>T	ENSP00000284165.6:n.*1213C>T
ENST00000341653.6:c.171+17118C>T	ENSP00000342482.2:n.171+17118C>T
ENST00000358402.8:c.342C>T	ENSP00000351175.4:p.Tyr114=
ENST00000358664.8:c.369C>T	ENSP00000351490.4:p.Tyr123=
ENST00000394606.6:c.*142C>T	ENSP00000378104.2:n.*142C>T
ENST00000553928.5:c.*158C>T	ENSP00000451907.1:n.*158C>T
ENST00000555419.5:c.261C>T	ENSP00000452405.1:p.Tyr87=
ENST00000555932.5:c.110C>T	ENSP00000450763.1:p.Thr37Ile
ENST00000557277.5:c.180C>T	ENSP00000450955.1:p.Tyr60=
ENST00000618858.4:c.*158C>T	ENSP00000480127.1:n.*158C>T
NM_001271069.1:c.144+17118C>T	NP_001257998.1:n.144+17118C>T
NM_002382.4:c.369C>T	NP_002373.3:p.Tyr123=
NM_145112.2:c.342C>T	NP_660087.1:p.Tyr114=
NM_145113.2:c.*158C>T	NP_660088.1:n.*158C>T
NM_197957.3:c.171+17118C>T	NP_932061.1:n.171+17118C>T
NR_073137.1:n.493C>T
XR_429315.2:n.656C>T
XR_943450.1:n.737C>T
XR_943451.1:n.753C>T
XR_943452.1:n.699C>T
NM_001320415.1:c.180C>T	NP_001307344.1:p.Tyr60=
XM_017021312.2:c.180C>T	XP_016876801.1:p.Tyr60=
XM_017021313.1:c.180C>T	XP_016876802.1:p.Tyr60=
XR_001750326.2:n.714C>T
XR_001750327.2:n.633C>T
XR_002957553.1:n.1147C>T
XR_943450.3:n.737C>T
XR_943451.3:n.753C>T
XR_943452.3:n.698C>T
NM_001320415.2:c.180C>T	NP_001307344.1:p.Tyr60=
NM_002382.5:c.369C>T MANE Select	NP_002373.3:p.Tyr123=
NM_145112.3:c.342C>T	NP_660087.1:p.Tyr114=
NM_145113.3:c.*158C>T	NP_660088.1:n.*158C>T
NM_001271069.2:c.144+17118C>T	NP_001257998.1:n.144+17118C>T
NM_197957.4:c.171+17118C>T	NP_932061.1:n.171+17118C>T