Canonical Allele Identifier: CA390031819

Gene: MAX

Linked Data

• ClinVar Variation Id: 1377922
• ClinVar RCV Id: RCV001914476
• dbSNP Id: rs2139741158
• MyVariant Identifiers: chr14:g.65543327G>A (hg19) ; chr14:g.65076609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076609G>A , CM000676.2:g.65076609G>A	GRCh38
NC_000014.8:g.65543327G>A , CM000676.1:g.65543327G>A	GRCh37
NC_000014.7:g.64613080G>A	NCBI36
NG_029830.1:g.30901C>T , LRG_530:g.30901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.131C>T	ENSP00000452206.2:p.Ser44Phe
ENST00000556979.6:c.*803C>T	ENSP00000452378.1:n.*803C>T
ENST00000358664.9:c.350C>T MANE Select	ENSP00000351490.4:p.Ser117Phe
ENST00000651648.1:c.145-6240C>T	ENSP00000498863.1:n.145-6240C>T
ENST00000284165.10:c.*1194C>T	ENSP00000284165.6:n.*1194C>T
ENST00000341653.6:c.171+17099C>T	ENSP00000342482.2:n.171+17099C>T
ENST00000358402.8:c.323C>T	ENSP00000351175.4:p.Ser108Phe
ENST00000358664.8:c.350C>T	ENSP00000351490.4:p.Ser117Phe
ENST00000394606.6:c.*123C>T	ENSP00000378104.2:n.*123C>T
ENST00000553928.5:c.*139C>T	ENSP00000451907.1:n.*139C>T
ENST00000555419.5:c.242C>T	ENSP00000452405.1:p.Ser81Phe
ENST00000555932.5:c.91C>T	ENSP00000450763.1:p.Pro31Ser
ENST00000556892.5:c.131C>T
ENST00000557277.5:c.161C>T	ENSP00000450955.1:p.Ser54Phe
ENST00000618858.4:c.*139C>T	ENSP00000480127.1:n.*139C>T
NM_001271069.1:c.144+17099C>T	NP_001257998.1:n.144+17099C>T
NM_002382.4:c.350C>T	NP_002373.3:p.Ser117Phe
NM_145112.2:c.323C>T	NP_660087.1:p.Ser108Phe
NM_145113.2:c.*139C>T	NP_660088.1:n.*139C>T
NM_197957.3:c.171+17099C>T	NP_932061.1:n.171+17099C>T
NR_073137.1:n.474C>T
XR_429315.2:n.637C>T
XR_943450.1:n.718C>T
XR_943451.1:n.734C>T
XR_943452.1:n.680C>T
NM_001320415.1:c.161C>T	NP_001307344.1:p.Ser54Phe
XM_017021312.2:c.161C>T	XP_016876801.1:p.Ser54Phe
XM_017021313.1:c.161C>T	XP_016876802.1:p.Ser54Phe
XR_001750326.2:n.695C>T
XR_001750327.2:n.614C>T
XR_002957553.1:n.1128C>T
XR_943450.3:n.718C>T
XR_943451.3:n.734C>T
XR_943452.3:n.679C>T
NM_001320415.2:c.161C>T	NP_001307344.1:p.Ser54Phe
NM_002382.5:c.350C>T MANE Select	NP_002373.3:p.Ser117Phe
NM_145112.3:c.323C>T	NP_660087.1:p.Ser108Phe
NM_145113.3:c.*139C>T	NP_660088.1:n.*139C>T
NM_001271069.2:c.144+17099C>T	NP_001257998.1:n.144+17099C>T
NM_197957.4:c.171+17099C>T	NP_932061.1:n.171+17099C>T