Canonical Allele Identifier: CA390031755

Gene: MAX

Linked Data

• ClinVar Variation Id: 1734363
• ClinVar RCV Id: RCV002349161 ; RCV003633619
• MyVariant Identifiers: chr14:g.65543305G>C (hg19) ; chr14:g.65076587G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076587G>C , CM000676.2:g.65076587G>C	GRCh38
NC_000014.8:g.65543305G>C , CM000676.1:g.65543305G>C	GRCh37
NC_000014.7:g.64613058G>C	NCBI36
NG_029830.1:g.30923C>G , LRG_530:g.30923C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.153C>G	ENSP00000452206.2:p.Thr51=
ENST00000556979.6:c.*825C>G	ENSP00000452378.1:n.*825C>G
ENST00000358664.9:c.372C>G MANE Select	ENSP00000351490.4:p.Thr124=
ENST00000651648.1:c.145-6218C>G	ENSP00000498863.1:n.145-6218C>G
ENST00000284165.10:c.*1216C>G	ENSP00000284165.6:n.*1216C>G
ENST00000341653.6:c.171+17121C>G	ENSP00000342482.2:n.171+17121C>G
ENST00000358402.8:c.345C>G	ENSP00000351175.4:p.Thr115=
ENST00000358664.8:c.372C>G	ENSP00000351490.4:p.Thr124=
ENST00000394606.6:c.*145C>G	ENSP00000378104.2:n.*145C>G
ENST00000553928.5:c.*161C>G	ENSP00000451907.1:n.*161C>G
ENST00000555419.5:c.264C>G	ENSP00000452405.1:p.Thr88=
ENST00000555932.5:c.113C>G	ENSP00000450763.1:p.Pro38Arg
ENST00000557277.5:c.183C>G	ENSP00000450955.1:p.Thr61=
ENST00000618858.4:c.*161C>G	ENSP00000480127.1:n.*161C>G
NM_001271069.1:c.144+17121C>G	NP_001257998.1:n.144+17121C>G
NM_002382.4:c.372C>G	NP_002373.3:p.Thr124=
NM_145112.2:c.345C>G	NP_660087.1:p.Thr115=
NM_145113.2:c.*161C>G	NP_660088.1:n.*161C>G
NM_197957.3:c.171+17121C>G	NP_932061.1:n.171+17121C>G
NR_073137.1:n.496C>G
XR_429315.2:n.659C>G
XR_943450.1:n.740C>G
XR_943451.1:n.756C>G
XR_943452.1:n.702C>G
NM_001320415.1:c.183C>G	NP_001307344.1:p.Thr61=
XM_017021312.2:c.183C>G	XP_016876801.1:p.Thr61=
XM_017021313.1:c.183C>G	XP_016876802.1:p.Thr61=
XR_001750326.2:n.717C>G
XR_001750327.2:n.636C>G
XR_002957553.1:n.1150C>G
XR_943450.3:n.740C>G
XR_943451.3:n.756C>G
XR_943452.3:n.701C>G
NM_001320415.2:c.183C>G	NP_001307344.1:p.Thr61=
NM_002382.5:c.372C>G MANE Select	NP_002373.3:p.Thr124=
NM_145112.3:c.345C>G	NP_660087.1:p.Thr115=
NM_145113.3:c.*161C>G	NP_660088.1:n.*161C>G
NM_001271069.2:c.144+17121C>G	NP_001257998.1:n.144+17121C>G
NM_197957.4:c.171+17121C>G	NP_932061.1:n.171+17121C>G