Canonical Allele Identifier: CA16614130

Gene: MAX

Linked Data

• ClinVar Variation Id: 404107
• ClinVar RCV Id: RCV000459549 ; RCV003362789
• dbSNP Id: rs1060500100
• gnomAD v4: 14-65076622-T-A
• MyVariant Identifiers: chr14:g.65543340T>A (hg19) ; chr14:g.65076622T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076622T>A , CM000676.2:g.65076622T>A	GRCh38
NC_000014.8:g.65543340T>A , CM000676.1:g.65543340T>A	GRCh37
NC_000014.7:g.64613093T>A	NCBI36
NG_029830.1:g.30888A>T , LRG_530:g.30888A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.118A>T	ENSP00000452206.2:p.Thr40Ser
ENST00000556979.6:c.*790A>T	ENSP00000452378.1:n.*790A>T
ENST00000358664.9:c.337A>T MANE Select	ENSP00000351490.4:p.Thr113Ser
ENST00000651648.1:c.145-6253A>T	ENSP00000498863.1:n.145-6253A>T
ENST00000284165.10:c.*1181A>T	ENSP00000284165.6:n.*1181A>T
ENST00000341653.6:c.171+17086A>T	ENSP00000342482.2:n.171+17086A>T
ENST00000358402.8:c.310A>T	ENSP00000351175.4:p.Thr104Ser
ENST00000358664.8:c.337A>T	ENSP00000351490.4:p.Thr113Ser
ENST00000394606.6:c.*110A>T	ENSP00000378104.2:n.*110A>T
ENST00000553928.5:c.*126A>T	ENSP00000451907.1:n.*126A>T
ENST00000555419.5:c.229A>T	ENSP00000452405.1:p.Thr77Ser
ENST00000555932.5:c.78A>T	ENSP00000450763.1:p.Arg26Ser
ENST00000556892.5:c.118A>T	ENSP00000452206.1:p.Thr40Ser
ENST00000557277.5:c.148A>T	ENSP00000450955.1:p.Thr50Ser
ENST00000618858.4:c.*126A>T	ENSP00000480127.1:n.*126A>T
NM_001271069.1:c.144+17086A>T	NP_001257998.1:n.144+17086A>T
NM_002382.4:c.337A>T	NP_002373.3:p.Thr113Ser
NM_145112.2:c.310A>T	NP_660087.1:p.Thr104Ser
NM_145113.2:c.*126A>T	NP_660088.1:n.*126A>T
NM_197957.3:c.171+17086A>T	NP_932061.1:n.171+17086A>T
NR_073137.1:n.461A>T
XR_429315.2:n.624A>T
XR_943450.1:n.705A>T
XR_943451.1:n.721A>T
XR_943452.1:n.667A>T
NM_001320415.1:c.148A>T	NP_001307344.1:p.Thr50Ser
XM_017021312.2:c.148A>T	XP_016876801.1:p.Thr50Ser
XM_017021313.1:c.148A>T	XP_016876802.1:p.Thr50Ser
XR_001750326.2:n.682A>T
XR_001750327.2:n.601A>T
XR_002957553.1:n.1115A>T
XR_943450.3:n.705A>T
XR_943451.3:n.721A>T
XR_943452.3:n.666A>T
NM_001320415.2:c.148A>T	NP_001307344.1:p.Thr50Ser
NM_002382.5:c.337A>T MANE Select	NP_002373.3:p.Thr113Ser
NM_145112.3:c.310A>T	NP_660087.1:p.Thr104Ser
NM_145113.3:c.*126A>T	NP_660088.1:n.*126A>T
NM_001271069.2:c.144+17086A>T	NP_001257998.1:n.144+17086A>T
NM_197957.4:c.171+17086A>T	NP_932061.1:n.171+17086A>T