Canonical Allele Identifier: CA390031862

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543343G>C (hg19) ; chr14:g.65076625G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076625G>C , CM000676.2:g.65076625G>C	GRCh38
NC_000014.8:g.65543343G>C , CM000676.1:g.65543343G>C	GRCh37
NC_000014.7:g.64613096G>C	NCBI36
NG_029830.1:g.30885C>G , LRG_530:g.30885C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.115C>G	ENSP00000452206.2:p.Gln39Glu
ENST00000556979.6:c.*787C>G	ENSP00000452378.1:n.*787C>G
ENST00000358664.9:c.334C>G MANE Select	ENSP00000351490.4:p.Gln112Glu
ENST00000651648.1:c.145-6256C>G	ENSP00000498863.1:n.145-6256C>G
ENST00000284165.10:c.*1178C>G	ENSP00000284165.6:n.*1178C>G
ENST00000341653.6:c.171+17083C>G	ENSP00000342482.2:n.171+17083C>G
ENST00000358402.8:c.307C>G	ENSP00000351175.4:p.Gln103Glu
ENST00000358664.8:c.334C>G	ENSP00000351490.4:p.Gln112Glu
ENST00000394606.6:c.*107C>G	ENSP00000378104.2:n.*107C>G
ENST00000553928.5:c.*123C>G	ENSP00000451907.1:n.*123C>G
ENST00000555419.5:c.226C>G	ENSP00000452405.1:p.Gln76Glu
ENST00000555932.5:c.75C>G	ENSP00000450763.1:p.Cys25Trp
ENST00000556892.5:c.115C>G	ENSP00000452206.1:p.Gln39Glu
ENST00000557277.5:c.145C>G	ENSP00000450955.1:p.Gln49Glu
ENST00000618858.4:c.*123C>G	ENSP00000480127.1:n.*123C>G
NM_001271069.1:c.144+17083C>G	NP_001257998.1:n.144+17083C>G
NM_002382.4:c.334C>G	NP_002373.3:p.Gln112Glu
NM_145112.2:c.307C>G	NP_660087.1:p.Gln103Glu
NM_145113.2:c.*123C>G	NP_660088.1:n.*123C>G
NM_197957.3:c.171+17083C>G	NP_932061.1:n.171+17083C>G
NR_073137.1:n.458C>G
XR_429315.2:n.621C>G
XR_943450.1:n.702C>G
XR_943451.1:n.718C>G
XR_943452.1:n.664C>G
NM_001320415.1:c.145C>G	NP_001307344.1:p.Gln49Glu
XM_017021312.2:c.145C>G	XP_016876801.1:p.Gln49Glu
XM_017021313.1:c.145C>G	XP_016876802.1:p.Gln49Glu
XR_001750326.2:n.679C>G
XR_001750327.2:n.598C>G
XR_002957553.1:n.1112C>G
XR_943450.3:n.702C>G
XR_943451.3:n.718C>G
XR_943452.3:n.663C>G
NM_001320415.2:c.145C>G	NP_001307344.1:p.Gln49Glu
NM_002382.5:c.334C>G MANE Select	NP_002373.3:p.Gln112Glu
NM_145112.3:c.307C>G	NP_660087.1:p.Gln103Glu
NM_145113.3:c.*123C>G	NP_660088.1:n.*123C>G
NM_001271069.2:c.144+17083C>G	NP_001257998.1:n.144+17083C>G
NM_197957.4:c.171+17083C>G	NP_932061.1:n.171+17083C>G