Canonical Allele Identifier: CA390031638

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543289T>A (hg19) ; chr14:g.65076571T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076571T>A , CM000676.2:g.65076571T>A	GRCh38
NC_000014.8:g.65543289T>A , CM000676.1:g.65543289T>A	GRCh37
NC_000014.7:g.64613042T>A	NCBI36
NG_029830.1:g.30939A>T , LRG_530:g.30939A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.169A>T	ENSP00000452206.2:p.Thr57Ser
ENST00000556979.6:c.*841A>T	ENSP00000452378.1:n.*841A>T
ENST00000358664.9:c.388A>T MANE Select	ENSP00000351490.4:p.Thr130Ser
ENST00000651648.1:c.145-6202A>T	ENSP00000498863.1:n.145-6202A>T
ENST00000284165.10:c.*1232A>T	ENSP00000284165.6:n.*1232A>T
ENST00000341653.6:c.171+17137A>T	ENSP00000342482.2:n.171+17137A>T
ENST00000358402.8:c.361A>T	ENSP00000351175.4:p.Thr121Ser
ENST00000358664.8:c.388A>T	ENSP00000351490.4:p.Thr130Ser
ENST00000394606.6:c.*161A>T	ENSP00000378104.2:n.*161A>T
ENST00000553928.5:c.*177A>T	ENSP00000451907.1:n.*177A>T
ENST00000555419.5:c.280A>T	ENSP00000452405.1:p.Thr94Ser
ENST00000555932.5:c.129A>T	ENSP00000450763.1:p.Ala43=
ENST00000557277.5:c.199A>T	ENSP00000450955.1:p.Thr67Ser
ENST00000618858.4:c.*177A>T	ENSP00000480127.1:n.*177A>T
NM_001271069.1:c.144+17137A>T	NP_001257998.1:n.144+17137A>T
NM_002382.4:c.388A>T	NP_002373.3:p.Thr130Ser
NM_145112.2:c.361A>T	NP_660087.1:p.Thr121Ser
NM_145113.2:c.*177A>T	NP_660088.1:n.*177A>T
NM_197957.3:c.171+17137A>T	NP_932061.1:n.171+17137A>T
NR_073137.1:n.512A>T
XR_429315.2:n.675A>T
NM_001320415.1:c.199A>T	NP_001307344.1:p.Thr67Ser
XM_017021312.2:c.199A>T	XP_016876801.1:p.Thr67Ser
XM_017021313.1:c.199A>T	XP_016876802.1:p.Thr67Ser
XR_001750326.2:n.733A>T
XR_001750327.2:n.652A>T
XR_002957553.1:n.1166A>T
XR_943450.3:n.756A>T
XR_943451.3:n.772A>T
XR_943452.3:n.717A>T
NM_001320415.2:c.199A>T	NP_001307344.1:p.Thr67Ser
NM_002382.5:c.388A>T MANE Select	NP_002373.3:p.Thr130Ser
NM_145112.3:c.361A>T	NP_660087.1:p.Thr121Ser
NM_145113.3:c.*177A>T	NP_660088.1:n.*177A>T
NM_001271069.2:c.144+17137A>T	NP_001257998.1:n.144+17137A>T
NM_197957.4:c.171+17137A>T	NP_932061.1:n.171+17137A>T