Canonical Allele Identifier: CA390031225

Gene: MAX

Linked Data

• ClinVar Variation Id: 2587741
• ClinVar RCV Id: RCV003360973
• dbSNP Id: rs2139739351
• MyVariant Identifiers: chr14:g.65543224G>T (hg19) ; chr14:g.65076506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076506G>T , CM000676.2:g.65076506G>T	GRCh38
NC_000014.8:g.65543224G>T , CM000676.1:g.65543224G>T	GRCh37
NC_000014.7:g.64612977G>T	NCBI36
NG_029830.1:g.31004C>A , LRG_530:g.31004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.234C>A	ENSP00000452206.2:p.Ser78Arg
ENST00000556979.6:c.*906C>A	ENSP00000452378.1:n.*906C>A
ENST00000358664.9:c.453C>A MANE Select	ENSP00000351490.4:p.Ser151Arg
ENST00000651648.1:c.145-6137C>A	ENSP00000498863.1:n.145-6137C>A
ENST00000284165.10:c.*1297C>A	ENSP00000284165.6:n.*1297C>A
ENST00000341653.6:c.171+17202C>A	ENSP00000342482.2:n.171+17202C>A
ENST00000358402.8:c.426C>A	ENSP00000351175.4:p.Ser142Arg
ENST00000358664.8:c.453C>A	ENSP00000351490.4:p.Ser151Arg
ENST00000394606.6:c.*226C>A	ENSP00000378104.2:n.*226C>A
ENST00000553928.5:c.*242C>A	ENSP00000451907.1:n.*242C>A
ENST00000555419.5:c.345C>A	ENSP00000452405.1:p.Ser115Arg
ENST00000555932.5:c.194C>A	ENSP00000450763.1:p.Ala65Glu
ENST00000557277.5:c.264C>A	ENSP00000450955.1:p.Ser88Arg
ENST00000618858.4:c.*242C>A	ENSP00000480127.1:n.*242C>A
NM_001271069.1:c.144+17202C>A	NP_001257998.1:n.144+17202C>A
NM_002382.4:c.453C>A	NP_002373.3:p.Ser151Arg
NM_145112.2:c.426C>A	NP_660087.1:p.Ser142Arg
NM_145113.2:c.*242C>A	NP_660088.1:n.*242C>A
NM_197957.3:c.171+17202C>A	NP_932061.1:n.171+17202C>A
NR_073137.1:n.577C>A
XR_429315.2:n.740C>A
NM_001320415.1:c.264C>A	NP_001307344.1:p.Ser88Arg
XM_017021312.2:c.264C>A	XP_016876801.1:p.Ser88Arg
XM_017021313.1:c.264C>A	XP_016876802.1:p.Ser88Arg
XR_001750326.2:n.798C>A
XR_001750327.2:n.717C>A
XR_002957553.1:n.1231C>A
XR_943450.3:n.821C>A
XR_943451.3:n.837C>A
XR_943452.3:n.782C>A
NM_001320415.2:c.264C>A	NP_001307344.1:p.Ser88Arg
NM_002382.5:c.453C>A MANE Select	NP_002373.3:p.Ser151Arg
NM_145112.3:c.426C>A	NP_660087.1:p.Ser142Arg
NM_145113.3:c.*242C>A	NP_660088.1:n.*242C>A
NM_001271069.2:c.144+17202C>A	NP_001257998.1:n.144+17202C>A
NM_197957.4:c.171+17202C>A	NP_932061.1:n.171+17202C>A