Canonical Allele Identifier: CA964079619

Gene: MAX

Linked Data

• dbSNP Id: rs2063043584
• gnomAD v3: 14-65075833-A-G
• gnomAD v4: 14-65075833-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075833A>G , CM000676.2:g.65075833A>G	GRCh38
NC_000014.8:g.65542551A>G , CM000676.1:g.65542551A>G	GRCh37
NC_000014.7:g.64612304A>G	NCBI36
NG_029830.1:g.31677T>C , LRG_530:g.31677T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.*643T>C	ENSP00000452206.2:n.*643T>C
ENST00000556979.6:c.*1579T>C	ENSP00000452378.1:n.*1579T>C
ENST00000358664.9:c.*643T>C MANE Select	ENSP00000351490.4:n.*643T>C
ENST00000651648.1:c.145-5464T>C	ENSP00000498863.1:n.145-5464T>C
ENST00000284165.10:c.*1970T>C	ENSP00000284165.6:n.*1970T>C
ENST00000341653.6:c.171+17875T>C	ENSP00000342482.2:n.171+17875T>C
ENST00000358402.8:c.*643T>C	ENSP00000351175.4:n.*643T>C
ENST00000358664.8:c.*643T>C	ENSP00000351490.4:n.*643T>C
ENST00000394606.6:c.*899T>C	ENSP00000378104.2:n.*899T>C
ENST00000555932.5:c.*618T>C	ENSP00000450763.1:n.*618T>C
ENST00000618858.4:c.*915T>C	ENSP00000480127.1:n.*915T>C
NM_001271069.1:c.144+17875T>C	NP_001257998.1:n.144+17875T>C
NM_002382.4:c.*643T>C	NP_002373.3:n.*643T>C
NM_145112.2:c.*643T>C	NP_660087.1:n.*643T>C
NM_145113.2:c.*915T>C	NP_660088.1:n.*915T>C
NM_197957.3:c.171+17875T>C	NP_932061.1:n.171+17875T>C
NR_073137.1:n.1250T>C
XR_429315.2:n.1413T>C
NM_001320415.1:c.*643T>C	NP_001307344.1:n.*643T>C
XM_017021312.2:c.*643T>C	XP_016876801.1:n.*643T>C
XM_017021313.1:c.*643T>C	XP_016876802.1:n.*643T>C
XR_001750326.2:n.1471T>C
XR_001750327.2:n.1390T>C
XR_002957553.1:n.1904T>C
XR_943450.3:n.1494T>C
XR_943451.3:n.1510T>C
XR_943452.3:n.1455T>C
NM_001320415.2:c.*643T>C	NP_001307344.1:n.*643T>C
NM_002382.5:c.*643T>C MANE Select	NP_002373.3:n.*643T>C
NM_145112.3:c.*643T>C	NP_660087.1:n.*643T>C
NM_145113.3:c.*915T>C	NP_660088.1:n.*915T>C
NM_001271069.2:c.144+17875T>C	NP_001257998.1:n.144+17875T>C
NM_197957.4:c.171+17875T>C	NP_932061.1:n.171+17875T>C