Canonical Allele Identifier: CA390031758

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543306G>C (hg19) ; chr14:g.65076588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076588G>C , CM000676.2:g.65076588G>C	GRCh38
NC_000014.8:g.65543306G>C , CM000676.1:g.65543306G>C	GRCh37
NC_000014.7:g.64613059G>C	NCBI36
NG_029830.1:g.30922C>G , LRG_530:g.30922C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.152C>G	ENSP00000452206.2:p.Thr51Ser
ENST00000556979.6:c.*824C>G	ENSP00000452378.1:n.*824C>G
ENST00000358664.9:c.371C>G MANE Select	ENSP00000351490.4:p.Thr124Ser
ENST00000651648.1:c.145-6219C>G	ENSP00000498863.1:n.145-6219C>G
ENST00000284165.10:c.*1215C>G	ENSP00000284165.6:n.*1215C>G
ENST00000341653.6:c.171+17120C>G	ENSP00000342482.2:n.171+17120C>G
ENST00000358402.8:c.344C>G	ENSP00000351175.4:p.Thr115Ser
ENST00000358664.8:c.371C>G	ENSP00000351490.4:p.Thr124Ser
ENST00000394606.6:c.*144C>G	ENSP00000378104.2:n.*144C>G
ENST00000553928.5:c.*160C>G	ENSP00000451907.1:n.*160C>G
ENST00000555419.5:c.263C>G	ENSP00000452405.1:p.Thr88Ser
ENST00000555932.5:c.112C>G	ENSP00000450763.1:p.Pro38Ala
ENST00000557277.5:c.182C>G	ENSP00000450955.1:p.Thr61Ser
ENST00000618858.4:c.*160C>G	ENSP00000480127.1:n.*160C>G
NM_001271069.1:c.144+17120C>G	NP_001257998.1:n.144+17120C>G
NM_002382.4:c.371C>G	NP_002373.3:p.Thr124Ser
NM_145112.2:c.344C>G	NP_660087.1:p.Thr115Ser
NM_145113.2:c.*160C>G	NP_660088.1:n.*160C>G
NM_197957.3:c.171+17120C>G	NP_932061.1:n.171+17120C>G
NR_073137.1:n.495C>G
XR_429315.2:n.658C>G
XR_943450.1:n.739C>G
XR_943451.1:n.755C>G
XR_943452.1:n.701C>G
NM_001320415.1:c.182C>G	NP_001307344.1:p.Thr61Ser
XM_017021312.2:c.182C>G	XP_016876801.1:p.Thr61Ser
XM_017021313.1:c.182C>G	XP_016876802.1:p.Thr61Ser
XR_001750326.2:n.716C>G
XR_001750327.2:n.635C>G
XR_002957553.1:n.1149C>G
XR_943450.3:n.739C>G
XR_943451.3:n.755C>G
XR_943452.3:n.700C>G
NM_001320415.2:c.182C>G	NP_001307344.1:p.Thr61Ser
NM_002382.5:c.371C>G MANE Select	NP_002373.3:p.Thr124Ser
NM_145112.3:c.344C>G	NP_660087.1:p.Thr115Ser
NM_145113.3:c.*160C>G	NP_660088.1:n.*160C>G
NM_001271069.2:c.144+17120C>G	NP_001257998.1:n.144+17120C>G
NM_197957.4:c.171+17120C>G	NP_932061.1:n.171+17120C>G