Canonical Allele Identifier: CA964079472

Gene: MAX

Linked Data

• dbSNP Id: rs2063031738
• gnomAD v3: 14-65075389-A-G
• gnomAD v4: 14-65075389-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075389A>G , CM000676.2:g.65075389A>G	GRCh38
NC_000014.8:g.65542107A>G , CM000676.1:g.65542107A>G	GRCh37
NC_000014.7:g.64611860A>G	NCBI36
NG_029830.1:g.32121T>C , LRG_530:g.32121T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000556979.6:c.*2023T>C	ENSP00000452378.1:n.*2023T>C
ENST00000358664.9:c.*1087T>C MANE Select	ENSP00000351490.4:n.*1087T>C
ENST00000651648.1:c.145-5020T>C	ENSP00000498863.1:n.145-5020T>C
ENST00000284165.10:c.*2414T>C	ENSP00000284165.6:n.*2414T>C
ENST00000341653.6:c.171+18319T>C	ENSP00000342482.2:n.171+18319T>C
ENST00000358402.8:c.*1087T>C	ENSP00000351175.4:n.*1087T>C
ENST00000394606.6:c.*1343T>C	ENSP00000378104.2:n.*1343T>C
ENST00000555932.5:c.*1062T>C	ENSP00000450763.1:n.*1062T>C
ENST00000618858.4:c.*1359T>C	ENSP00000480127.1:n.*1359T>C
NM_001271069.1:c.144+18319T>C	NP_001257998.1:n.144+18319T>C
NM_002382.4:c.*1087T>C	NP_002373.3:n.*1087T>C
NM_145112.2:c.*1087T>C	NP_660087.1:n.*1087T>C
NM_145113.2:c.*1359T>C	NP_660088.1:n.*1359T>C
NM_197957.3:c.171+18319T>C	NP_932061.1:n.171+18319T>C
NR_073137.1:n.1694T>C
XR_429315.2:n.1857T>C
NM_001320415.1:c.*1087T>C	NP_001307344.1:n.*1087T>C
XM_017021312.2:c.*1087T>C	XP_016876801.1:n.*1087T>C
XM_017021313.1:c.*1087T>C	XP_016876802.1:n.*1087T>C
XR_001750326.2:n.1915T>C
XR_001750327.2:n.1834T>C
XR_002957553.1:n.2348T>C
XR_943450.3:n.1938T>C
XR_943451.3:n.1954T>C
XR_943452.3:n.1899T>C
NM_001320415.2:c.*1087T>C	NP_001307344.1:n.*1087T>C
NM_002382.5:c.*1087T>C MANE Select	NP_002373.3:n.*1087T>C
NM_145112.3:c.*1087T>C	NP_660087.1:n.*1087T>C
NM_145113.3:c.*1359T>C	NP_660088.1:n.*1359T>C
NM_001271069.2:c.144+18319T>C	NP_001257998.1:n.144+18319T>C
NM_197957.4:c.171+18319T>C	NP_932061.1:n.171+18319T>C