Canonical Allele Identifier: CA390035992

Gene: MAX

Linked Data

• ClinVar Variation Id: 947847
• ClinVar RCV Id: RCV001218991
• dbSNP Id: rs2063106124
• MyVariant Identifiers: chr14:g.65544748G>A (hg19) ; chr14:g.65078030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65078030G>A , CM000676.2:g.65078030G>A	GRCh38
NC_000014.8:g.65544748G>A , CM000676.1:g.65544748G>A	GRCh37
NC_000014.7:g.64614501G>A	NCBI36
NG_029830.1:g.29480C>T , LRG_530:g.29480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.-42C>T	ENSP00000452206.2:n.-42C>T
ENST00000556979.6:c.178C>T	ENSP00000452378.1:p.Arg60Trp
ENST00000358664.9:c.178C>T MANE Select	ENSP00000351490.4:p.Arg60Trp
ENST00000651648.1:c.145-7661C>T	ENSP00000498863.1:n.145-7661C>T
ENST00000284165.10:c.178C>T	ENSP00000284165.6:p.Arg60Trp
ENST00000341653.6:c.171+15678C>T	ENSP00000342482.2:n.171+15678C>T
ENST00000358402.8:c.151C>T	ENSP00000351175.4:p.Arg51Trp
ENST00000358664.8:c.178C>T	ENSP00000351490.4:p.Arg60Trp
ENST00000394606.6:c.178C>T	ENSP00000378104.2:p.Arg60Trp
ENST00000553928.5:c.178C>T	ENSP00000451907.1:p.Arg60Trp
ENST00000553951.1:n.255C>T
ENST00000555419.5:c.70C>T	ENSP00000452405.1:p.Arg24Trp
ENST00000555667.5:c.151C>T	ENSP00000452286.1:p.Arg51Trp
ENST00000555932.5:c.37-1367C>T	ENSP00000450763.1:n.37-1367C>T
ENST00000556443.5:c.151C>T	ENSP00000450818.1:p.Arg51Trp
ENST00000556892.5:c.-42C>T	ENSP00000452206.1:n.-42C>T
ENST00000556979.5:c.178C>T	ENSP00000452378.1:p.Arg60Trp
ENST00000557277.5:c.-97C>T	ENSP00000450955.1:n.-97C>T
ENST00000557746.5:c.151C>T	ENSP00000452197.1:p.Arg51Trp
ENST00000618858.4:c.178C>T	ENSP00000480127.1:p.Arg60Trp
NM_001271069.1:c.144+15678C>T	NP_001257998.1:n.144+15678C>T
NM_002382.4:c.178C>T	NP_002373.3:p.Arg60Trp
NM_145112.2:c.151C>T	NP_660087.1:p.Arg51Trp
NM_145113.2:c.178C>T	NP_660088.1:p.Arg60Trp
NM_197957.3:c.171+15678C>T	NP_932061.1:n.171+15678C>T
NR_073137.1:n.302C>T
XM_011536773.1:c.178C>T	XP_011535075.1:p.Arg60Trp
XR_429315.2:n.380C>T
XR_943450.1:n.380C>T
XR_943451.1:n.380C>T
XR_943452.1:n.342C>T
NM_001320415.1:c.-97C>T	NP_001307344.1:n.-97C>T
XM_011536773.3:c.178C>T	XP_011535075.1:p.Arg60Trp
XM_017021312.2:c.-97C>T	XP_016876801.1:n.-97C>T
XM_017021313.1:c.-97C>T	XP_016876802.1:n.-97C>T
XR_001750326.2:n.341C>T
XR_001750327.2:n.341C>T
XR_002957553.1:n.371C>T
XR_943450.3:n.380C>T
XR_943451.3:n.380C>T
XR_943452.3:n.341C>T
NM_001320415.2:c.-97C>T	NP_001307344.1:n.-97C>T
NM_002382.5:c.178C>T MANE Select	NP_002373.3:p.Arg60Trp
NM_145112.3:c.151C>T	NP_660087.1:p.Arg51Trp
NM_145113.3:c.178C>T	NP_660088.1:p.Arg60Trp
NM_001271069.2:c.144+15678C>T	NP_001257998.1:n.144+15678C>T
NM_197957.4:c.171+15678C>T	NP_932061.1:n.171+15678C>T