Canonical Allele Identifier: CA2625289597

Gene: MAX

Linked Data

• gnomAD v4: 14-65076147-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076147G>A , CM000676.2:g.65076147G>A	GRCh38
NC_000014.8:g.65542865G>A , CM000676.1:g.65542865G>A	GRCh37
NC_000014.7:g.64612618G>A	NCBI36
NG_029830.1:g.31363C>T , LRG_530:g.31363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*329C>T	ENSP00000452206.2:n.*329C>T
ENST00000556979.6:c.*1265C>T	ENSP00000452378.1:n.*1265C>T
ENST00000358664.9:c.*329C>T MANE Select	ENSP00000351490.4:n.*329C>T
ENST00000651648.1:c.145-5778C>T	ENSP00000498863.1:n.145-5778C>T
ENST00000284165.10:c.*1656C>T	ENSP00000284165.6:n.*1656C>T
ENST00000341653.6:c.171+17561C>T	ENSP00000342482.2:n.171+17561C>T
ENST00000358402.8:c.*329C>T	ENSP00000351175.4:n.*329C>T
ENST00000358664.8:c.*329C>T	ENSP00000351490.4:n.*329C>T
ENST00000394606.6:c.*585C>T	ENSP00000378104.2:n.*585C>T
ENST00000555419.5:c.704C>T	ENSP00000452405.1:n.704C>T
ENST00000555932.5:c.*304C>T	ENSP00000450763.1:n.*304C>T
ENST00000618858.4:c.*601C>T	ENSP00000480127.1:n.*601C>T
NM_001271069.1:c.144+17561C>T	NP_001257998.1:n.144+17561C>T
NM_002382.4:c.*329C>T	NP_002373.3:n.*329C>T
NM_145112.2:c.*329C>T	NP_660087.1:n.*329C>T
NM_145113.2:c.*601C>T	NP_660088.1:n.*601C>T
NM_197957.3:c.171+17561C>T	NP_932061.1:n.171+17561C>T
NR_073137.1:n.936C>T
XR_429315.2:n.1099C>T
NM_001320415.1:c.*329C>T	NP_001307344.1:n.*329C>T
XM_017021312.2:c.*329C>T	XP_016876801.1:n.*329C>T
XM_017021313.1:c.*329C>T	XP_016876802.1:n.*329C>T
XR_001750326.2:n.1157C>T
XR_001750327.2:n.1076C>T
XR_002957553.1:n.1590C>T
XR_943450.3:n.1180C>T
XR_943451.3:n.1196C>T
XR_943452.3:n.1141C>T
NM_001320415.2:c.*329C>T	NP_001307344.1:n.*329C>T
NM_002382.5:c.*329C>T MANE Select	NP_002373.3:n.*329C>T
NM_145112.3:c.*329C>T	NP_660087.1:n.*329C>T
NM_145113.3:c.*601C>T	NP_660088.1:n.*601C>T
NM_001271069.2:c.144+17561C>T	NP_001257998.1:n.144+17561C>T
NM_197957.4:c.171+17561C>T	NP_932061.1:n.171+17561C>T