Canonical Allele Identifier: CA7232790

Gene: MAX

Linked Data

• ClinVar Variation Id: 404109
• ClinVar RCV Id: RCV000473532 ; RCV001022163 ; RCV003470394
• dbSNP Id: rs760147253
• ExAC: 14:65543252 G / A
• gnomAD v2: 14-65543252-G-A
• gnomAD v3: 14-65076534-G-A
• gnomAD v4: 14-65076534-G-A
• COSMIC: COSM4577970
• MyVariant Identifiers: chr14:g.65543252G>A (hg19) ; chr14:g.65076534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076534G>A , CM000676.2:g.65076534G>A	GRCh38
NC_000014.8:g.65543252G>A , CM000676.1:g.65543252G>A	GRCh37
NC_000014.7:g.64613005G>A	NCBI36
NG_029830.1:g.30976C>T , LRG_530:g.30976C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.206C>T	ENSP00000452206.2:p.Ser69Leu
ENST00000556979.6:c.*878C>T	ENSP00000452378.1:n.*878C>T
ENST00000358664.9:c.425C>T MANE Select	ENSP00000351490.4:p.Ser142Leu
ENST00000651648.1:c.145-6165C>T	ENSP00000498863.1:n.145-6165C>T
ENST00000284165.10:c.*1269C>T	ENSP00000284165.6:n.*1269C>T
ENST00000341653.6:c.171+17174C>T	ENSP00000342482.2:n.171+17174C>T
ENST00000358402.8:c.398C>T	ENSP00000351175.4:p.Ser133Leu
ENST00000358664.8:c.425C>T	ENSP00000351490.4:p.Ser142Leu
ENST00000394606.6:c.*198C>T	ENSP00000378104.2:n.*198C>T
ENST00000553928.5:c.*214C>T	ENSP00000451907.1:n.*214C>T
ENST00000555419.5:c.317C>T	ENSP00000452405.1:p.Ser106Leu
ENST00000555932.5:c.166C>T	ENSP00000450763.1:p.Arg56Trp
ENST00000557277.5:c.236C>T	ENSP00000450955.1:p.Ser79Leu
ENST00000618858.4:c.*214C>T	ENSP00000480127.1:n.*214C>T
NM_001271069.1:c.144+17174C>T	NP_001257998.1:n.144+17174C>T
NM_002382.4:c.425C>T	NP_002373.3:p.Ser142Leu
NM_145112.2:c.398C>T	NP_660087.1:p.Ser133Leu
NM_145113.2:c.*214C>T	NP_660088.1:n.*214C>T
NM_197957.3:c.171+17174C>T	NP_932061.1:n.171+17174C>T
NR_073137.1:n.549C>T
XR_429315.2:n.712C>T
NM_001320415.1:c.236C>T	NP_001307344.1:p.Ser79Leu
XM_017021312.2:c.236C>T	XP_016876801.1:p.Ser79Leu
XM_017021313.1:c.236C>T	XP_016876802.1:p.Ser79Leu
XR_001750326.2:n.770C>T
XR_001750327.2:n.689C>T
XR_002957553.1:n.1203C>T
XR_943450.3:n.793C>T
XR_943451.3:n.809C>T
XR_943452.3:n.754C>T
NM_001320415.2:c.236C>T	NP_001307344.1:p.Ser79Leu
NM_002382.5:c.425C>T MANE Select	NP_002373.3:p.Ser142Leu
NM_145112.3:c.398C>T	NP_660087.1:p.Ser133Leu
NM_145113.3:c.*214C>T	NP_660088.1:n.*214C>T
NM_001271069.2:c.144+17174C>T	NP_001257998.1:n.144+17174C>T
NM_197957.4:c.171+17174C>T	NP_932061.1:n.171+17174C>T