Canonical Allele Identifier: CA390031665

Gene: MAX

Linked Data

• ClinVar Variation Id: 2762829
• ClinVar RCV Id: RCV003517625
• MyVariant Identifiers: chr14:g.65543292T>A (hg19) ; chr14:g.65076574T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076574T>A , CM000676.2:g.65076574T>A	GRCh38
NC_000014.8:g.65543292T>A , CM000676.1:g.65543292T>A	GRCh37
NC_000014.7:g.64613045T>A	NCBI36
NG_029830.1:g.30936A>T , LRG_530:g.30936A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.166A>T	ENSP00000452206.2:p.Ser56Cys
ENST00000556979.6:c.*838A>T	ENSP00000452378.1:n.*838A>T
ENST00000358664.9:c.385A>T MANE Select	ENSP00000351490.4:p.Ser129Cys
ENST00000651648.1:c.145-6205A>T	ENSP00000498863.1:n.145-6205A>T
ENST00000284165.10:c.*1229A>T	ENSP00000284165.6:n.*1229A>T
ENST00000341653.6:c.171+17134A>T	ENSP00000342482.2:n.171+17134A>T
ENST00000358402.8:c.358A>T	ENSP00000351175.4:p.Ser120Cys
ENST00000358664.8:c.385A>T	ENSP00000351490.4:p.Ser129Cys
ENST00000394606.6:c.*158A>T	ENSP00000378104.2:n.*158A>T
ENST00000553928.5:c.*174A>T	ENSP00000451907.1:n.*174A>T
ENST00000555419.5:c.277A>T	ENSP00000452405.1:p.Ser93Cys
ENST00000555932.5:c.126A>T	ENSP00000450763.1:p.Ala42=
ENST00000557277.5:c.196A>T	ENSP00000450955.1:p.Ser66Cys
ENST00000618858.4:c.*174A>T	ENSP00000480127.1:n.*174A>T
NM_001271069.1:c.144+17134A>T	NP_001257998.1:n.144+17134A>T
NM_002382.4:c.385A>T	NP_002373.3:p.Ser129Cys
NM_145112.2:c.358A>T	NP_660087.1:p.Ser120Cys
NM_145113.2:c.*174A>T	NP_660088.1:n.*174A>T
NM_197957.3:c.171+17134A>T	NP_932061.1:n.171+17134A>T
NR_073137.1:n.509A>T
XR_429315.2:n.672A>T
NM_001320415.1:c.196A>T	NP_001307344.1:p.Ser66Cys
XM_017021312.2:c.196A>T	XP_016876801.1:p.Ser66Cys
XM_017021313.1:c.196A>T	XP_016876802.1:p.Ser66Cys
XR_001750326.2:n.730A>T
XR_001750327.2:n.649A>T
XR_002957553.1:n.1163A>T
XR_943450.3:n.753A>T
XR_943451.3:n.769A>T
XR_943452.3:n.714A>T
NM_001320415.2:c.196A>T	NP_001307344.1:p.Ser66Cys
NM_002382.5:c.385A>T MANE Select	NP_002373.3:p.Ser129Cys
NM_145112.3:c.358A>T	NP_660087.1:p.Ser120Cys
NM_145113.3:c.*174A>T	NP_660088.1:n.*174A>T
NM_001271069.2:c.144+17134A>T	NP_001257998.1:n.144+17134A>T
NM_197957.4:c.171+17134A>T	NP_932061.1:n.171+17134A>T