Canonical Allele Identifier: CA2625289323

Gene: MAX

Linked Data

• gnomAD v4: 14-65075923-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075923T>G , CM000676.2:g.65075923T>G	GRCh38
NC_000014.8:g.65542641T>G , CM000676.1:g.65542641T>G	GRCh37
NC_000014.7:g.64612394T>G	NCBI36
NG_029830.1:g.31587A>C , LRG_530:g.31587A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.*553A>C	ENSP00000452206.2:n.*553A>C
ENST00000556979.6:c.*1489A>C	ENSP00000452378.1:n.*1489A>C
ENST00000358664.9:c.*553A>C MANE Select	ENSP00000351490.4:n.*553A>C
ENST00000651648.1:c.145-5554A>C	ENSP00000498863.1:n.145-5554A>C
ENST00000284165.10:c.*1880A>C	ENSP00000284165.6:n.*1880A>C
ENST00000341653.6:c.171+17785A>C	ENSP00000342482.2:n.171+17785A>C
ENST00000358402.8:c.*553A>C	ENSP00000351175.4:n.*553A>C
ENST00000358664.8:c.*553A>C	ENSP00000351490.4:n.*553A>C
ENST00000394606.6:c.*809A>C	ENSP00000378104.2:n.*809A>C
ENST00000555932.5:c.*528A>C	ENSP00000450763.1:n.*528A>C
ENST00000618858.4:c.*825A>C	ENSP00000480127.1:n.*825A>C
NM_001271069.1:c.144+17785A>C	NP_001257998.1:n.144+17785A>C
NM_002382.4:c.*553A>C	NP_002373.3:n.*553A>C
NM_145112.2:c.*553A>C	NP_660087.1:n.*553A>C
NM_145113.2:c.*825A>C	NP_660088.1:n.*825A>C
NM_197957.3:c.171+17785A>C	NP_932061.1:n.171+17785A>C
NR_073137.1:n.1160A>C
XR_429315.2:n.1323A>C
NM_001320415.1:c.*553A>C	NP_001307344.1:n.*553A>C
XM_017021312.2:c.*553A>C	XP_016876801.1:n.*553A>C
XM_017021313.1:c.*553A>C	XP_016876802.1:n.*553A>C
XR_001750326.2:n.1381A>C
XR_001750327.2:n.1300A>C
XR_002957553.1:n.1814A>C
XR_943450.3:n.1404A>C
XR_943451.3:n.1420A>C
XR_943452.3:n.1365A>C
NM_001320415.2:c.*553A>C	NP_001307344.1:n.*553A>C
NM_002382.5:c.*553A>C MANE Select	NP_002373.3:n.*553A>C
NM_145112.3:c.*553A>C	NP_660087.1:n.*553A>C
NM_145113.3:c.*825A>C	NP_660088.1:n.*825A>C
NM_001271069.2:c.144+17785A>C	NP_001257998.1:n.144+17785A>C
NM_197957.4:c.171+17785A>C	NP_932061.1:n.171+17785A>C