Canonical Allele Identifier: CA390031841

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543335G>T (hg19) ; chr14:g.65076617G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076617G>T , CM000676.2:g.65076617G>T	GRCh38
NC_000014.8:g.65543335G>T , CM000676.1:g.65543335G>T	GRCh37
NC_000014.7:g.64613088G>T	NCBI36
NG_029830.1:g.30893C>A , LRG_530:g.30893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.123C>A	ENSP00000452206.2:p.Asn41Lys
ENST00000556979.6:c.*795C>A	ENSP00000452378.1:n.*795C>A
ENST00000358664.9:c.342C>A MANE Select	ENSP00000351490.4:p.Asn114Lys
ENST00000651648.1:c.145-6248C>A	ENSP00000498863.1:n.145-6248C>A
ENST00000284165.10:c.*1186C>A	ENSP00000284165.6:n.*1186C>A
ENST00000341653.6:c.171+17091C>A	ENSP00000342482.2:n.171+17091C>A
ENST00000358402.8:c.315C>A	ENSP00000351175.4:p.Asn105Lys
ENST00000358664.8:c.342C>A	ENSP00000351490.4:p.Asn114Lys
ENST00000394606.6:c.*115C>A	ENSP00000378104.2:n.*115C>A
ENST00000553928.5:c.*131C>A	ENSP00000451907.1:n.*131C>A
ENST00000555419.5:c.234C>A	ENSP00000452405.1:p.Asn78Lys
ENST00000555932.5:c.83C>A	ENSP00000450763.1:p.Thr28Asn
ENST00000556892.5:c.123C>A	ENSP00000452206.1:p.Asn41Lys
ENST00000557277.5:c.153C>A	ENSP00000450955.1:p.Asn51Lys
ENST00000618858.4:c.*131C>A	ENSP00000480127.1:n.*131C>A
NM_001271069.1:c.144+17091C>A	NP_001257998.1:n.144+17091C>A
NM_002382.4:c.342C>A	NP_002373.3:p.Asn114Lys
NM_145112.2:c.315C>A	NP_660087.1:p.Asn105Lys
NM_145113.2:c.*131C>A	NP_660088.1:n.*131C>A
NM_197957.3:c.171+17091C>A	NP_932061.1:n.171+17091C>A
NR_073137.1:n.466C>A
XR_429315.2:n.629C>A
XR_943450.1:n.710C>A
XR_943451.1:n.726C>A
XR_943452.1:n.672C>A
NM_001320415.1:c.153C>A	NP_001307344.1:p.Asn51Lys
XM_017021312.2:c.153C>A	XP_016876801.1:p.Asn51Lys
XM_017021313.1:c.153C>A	XP_016876802.1:p.Asn51Lys
XR_001750326.2:n.687C>A
XR_001750327.2:n.606C>A
XR_002957553.1:n.1120C>A
XR_943450.3:n.710C>A
XR_943451.3:n.726C>A
XR_943452.3:n.671C>A
NM_001320415.2:c.153C>A	NP_001307344.1:p.Asn51Lys
NM_002382.5:c.342C>A MANE Select	NP_002373.3:p.Asn114Lys
NM_145112.3:c.315C>A	NP_660087.1:p.Asn105Lys
NM_145113.3:c.*131C>A	NP_660088.1:n.*131C>A
NM_001271069.2:c.144+17091C>A	NP_001257998.1:n.144+17091C>A
NM_197957.4:c.171+17091C>A	NP_932061.1:n.171+17091C>A