Canonical Allele Identifier: CA390031436

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543259A>G (hg19) ; chr14:g.65076541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076541A>G , CM000676.2:g.65076541A>G	GRCh38
NC_000014.8:g.65543259A>G , CM000676.1:g.65543259A>G	GRCh37
NC_000014.7:g.64613012A>G	NCBI36
NG_029830.1:g.30969T>C , LRG_530:g.30969T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.199T>C	ENSP00000452206.2:p.Ser67Pro
ENST00000556979.6:c.*871T>C	ENSP00000452378.1:n.*871T>C
ENST00000358664.9:c.418T>C MANE Select	ENSP00000351490.4:p.Ser140Pro
ENST00000651648.1:c.145-6172T>C	ENSP00000498863.1:n.145-6172T>C
ENST00000284165.10:c.*1262T>C	ENSP00000284165.6:n.*1262T>C
ENST00000341653.6:c.171+17167T>C	ENSP00000342482.2:n.171+17167T>C
ENST00000358402.8:c.391T>C	ENSP00000351175.4:p.Ser131Pro
ENST00000358664.8:c.418T>C	ENSP00000351490.4:p.Ser140Pro
ENST00000394606.6:c.*191T>C	ENSP00000378104.2:n.*191T>C
ENST00000553928.5:c.*207T>C	ENSP00000451907.1:n.*207T>C
ENST00000555419.5:c.310T>C	ENSP00000452405.1:p.Ser104Pro
ENST00000555932.5:c.159T>C	ENSP00000450763.1:p.Thr53=
ENST00000557277.5:c.229T>C	ENSP00000450955.1:p.Ser77Pro
ENST00000618858.4:c.*207T>C	ENSP00000480127.1:n.*207T>C
NM_001271069.1:c.144+17167T>C	NP_001257998.1:n.144+17167T>C
NM_002382.4:c.418T>C	NP_002373.3:p.Ser140Pro
NM_145112.2:c.391T>C	NP_660087.1:p.Ser131Pro
NM_145113.2:c.*207T>C	NP_660088.1:n.*207T>C
NM_197957.3:c.171+17167T>C	NP_932061.1:n.171+17167T>C
NR_073137.1:n.542T>C
XR_429315.2:n.705T>C
NM_001320415.1:c.229T>C	NP_001307344.1:p.Ser77Pro
XM_017021312.2:c.229T>C	XP_016876801.1:p.Ser77Pro
XM_017021313.1:c.229T>C	XP_016876802.1:p.Ser77Pro
XR_001750326.2:n.763T>C
XR_001750327.2:n.682T>C
XR_002957553.1:n.1196T>C
XR_943450.3:n.786T>C
XR_943451.3:n.802T>C
XR_943452.3:n.747T>C
NM_001320415.2:c.229T>C	NP_001307344.1:p.Ser77Pro
NM_002382.5:c.418T>C MANE Select	NP_002373.3:p.Ser140Pro
NM_145112.3:c.391T>C	NP_660087.1:p.Ser131Pro
NM_145113.3:c.*207T>C	NP_660088.1:n.*207T>C
NM_001271069.2:c.144+17167T>C	NP_001257998.1:n.144+17167T>C
NM_197957.4:c.171+17167T>C	NP_932061.1:n.171+17167T>C