Canonical Allele Identifier: CA390031455

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543264G>C (hg19) ; chr14:g.65076546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076546G>C , CM000676.2:g.65076546G>C	GRCh38
NC_000014.8:g.65543264G>C , CM000676.1:g.65543264G>C	GRCh37
NC_000014.7:g.64613017G>C	NCBI36
NG_029830.1:g.30964C>G , LRG_530:g.30964C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.194C>G	ENSP00000452206.2:p.Ser65Trp
ENST00000556979.6:c.*866C>G	ENSP00000452378.1:n.*866C>G
ENST00000358664.9:c.413C>G MANE Select	ENSP00000351490.4:p.Ser138Trp
ENST00000651648.1:c.145-6177C>G	ENSP00000498863.1:n.145-6177C>G
ENST00000284165.10:c.*1257C>G	ENSP00000284165.6:n.*1257C>G
ENST00000341653.6:c.171+17162C>G	ENSP00000342482.2:n.171+17162C>G
ENST00000358402.8:c.386C>G	ENSP00000351175.4:p.Ser129Trp
ENST00000358664.8:c.413C>G	ENSP00000351490.4:p.Ser138Trp
ENST00000394606.6:c.*186C>G	ENSP00000378104.2:n.*186C>G
ENST00000553928.5:c.*202C>G	ENSP00000451907.1:n.*202C>G
ENST00000555419.5:c.305C>G	ENSP00000452405.1:p.Ser102Trp
ENST00000555932.5:c.154C>G	ENSP00000450763.1:p.Arg52Gly
ENST00000557277.5:c.224C>G	ENSP00000450955.1:p.Ser75Trp
ENST00000618858.4:c.*202C>G	ENSP00000480127.1:n.*202C>G
NM_001271069.1:c.144+17162C>G	NP_001257998.1:n.144+17162C>G
NM_002382.4:c.413C>G	NP_002373.3:p.Ser138Trp
NM_145112.2:c.386C>G	NP_660087.1:p.Ser129Trp
NM_145113.2:c.*202C>G	NP_660088.1:n.*202C>G
NM_197957.3:c.171+17162C>G	NP_932061.1:n.171+17162C>G
NR_073137.1:n.537C>G
XR_429315.2:n.700C>G
NM_001320415.1:c.224C>G	NP_001307344.1:p.Ser75Trp
XM_017021312.2:c.224C>G	XP_016876801.1:p.Ser75Trp
XM_017021313.1:c.224C>G	XP_016876802.1:p.Ser75Trp
XR_001750326.2:n.758C>G
XR_001750327.2:n.677C>G
XR_002957553.1:n.1191C>G
XR_943450.3:n.781C>G
XR_943451.3:n.797C>G
XR_943452.3:n.742C>G
NM_001320415.2:c.224C>G	NP_001307344.1:p.Ser75Trp
NM_002382.5:c.413C>G MANE Select	NP_002373.3:p.Ser138Trp
NM_145112.3:c.386C>G	NP_660087.1:p.Ser129Trp
NM_145113.3:c.*202C>G	NP_660088.1:n.*202C>G
NM_001271069.2:c.144+17162C>G	NP_001257998.1:n.144+17162C>G
NM_197957.4:c.171+17162C>G	NP_932061.1:n.171+17162C>G