Canonical Allele Identifier: CA707784474

Gene: MAX

Linked Data

• dbSNP Id: rs1207749754
• gnomAD v3: 14-65075840-C-T
• gnomAD v4: 14-65075840-C-T
• MyVariant Identifiers: chr14:g.65542558C>T (hg19) ; chr14:g.65075840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075840C>T , CM000676.2:g.65075840C>T	GRCh38
NC_000014.8:g.65542558C>T , CM000676.1:g.65542558C>T	GRCh37
NC_000014.7:g.64612311C>T	NCBI36
NG_029830.1:g.31670G>A , LRG_530:g.31670G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.*636G>A	ENSP00000452206.2:n.*636G>A
ENST00000556979.6:c.*1572G>A	ENSP00000452378.1:n.*1572G>A
ENST00000358664.9:c.*636G>A MANE Select	ENSP00000351490.4:n.*636G>A
ENST00000651648.1:c.145-5471G>A	ENSP00000498863.1:n.145-5471G>A
ENST00000284165.10:c.*1963G>A	ENSP00000284165.6:n.*1963G>A
ENST00000341653.6:c.171+17868G>A	ENSP00000342482.2:n.171+17868G>A
ENST00000358402.8:c.*636G>A	ENSP00000351175.4:n.*636G>A
ENST00000358664.8:c.*636G>A	ENSP00000351490.4:n.*636G>A
ENST00000394606.6:c.*892G>A	ENSP00000378104.2:n.*892G>A
ENST00000555932.5:c.*611G>A	ENSP00000450763.1:n.*611G>A
ENST00000618858.4:c.*908G>A	ENSP00000480127.1:n.*908G>A
NM_001271069.1:c.144+17868G>A	NP_001257998.1:n.144+17868G>A
NM_002382.4:c.*636G>A	NP_002373.3:n.*636G>A
NM_145112.2:c.*636G>A	NP_660087.1:n.*636G>A
NM_145113.2:c.*908G>A	NP_660088.1:n.*908G>A
NM_197957.3:c.171+17868G>A	NP_932061.1:n.171+17868G>A
NR_073137.1:n.1243G>A
XR_429315.2:n.1406G>A
NM_001320415.1:c.*636G>A	NP_001307344.1:n.*636G>A
XM_017021312.2:c.*636G>A	XP_016876801.1:n.*636G>A
XM_017021313.1:c.*636G>A	XP_016876802.1:n.*636G>A
XR_001750326.2:n.1464G>A
XR_001750327.2:n.1383G>A
XR_002957553.1:n.1897G>A
XR_943450.3:n.1487G>A
XR_943451.3:n.1503G>A
XR_943452.3:n.1448G>A
NM_001320415.2:c.*636G>A	NP_001307344.1:n.*636G>A
NM_002382.5:c.*636G>A MANE Select	NP_002373.3:n.*636G>A
NM_145112.3:c.*636G>A	NP_660087.1:n.*636G>A
NM_145113.3:c.*908G>A	NP_660088.1:n.*908G>A
NM_001271069.2:c.144+17868G>A	NP_001257998.1:n.144+17868G>A
NM_197957.4:c.171+17868G>A	NP_932061.1:n.171+17868G>A