Canonical Allele Identifier: CA707784734

Gene: MAX

Linked Data

• dbSNP Id: rs1240399713
• gnomAD v3: 14-65076157-C-G
• gnomAD v4: 14-65076157-C-G
• MyVariant Identifiers: chr14:g.65542875C>G (hg19) ; chr14:g.65076157C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076157C>G , CM000676.2:g.65076157C>G	GRCh38
NC_000014.8:g.65542875C>G , CM000676.1:g.65542875C>G	GRCh37
NC_000014.7:g.64612628C>G	NCBI36
NG_029830.1:g.31353G>C , LRG_530:g.31353G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*319G>C	ENSP00000452206.2:n.*319G>C
ENST00000556979.6:c.*1255G>C	ENSP00000452378.1:n.*1255G>C
ENST00000358664.9:c.*319G>C MANE Select	ENSP00000351490.4:n.*319G>C
ENST00000651648.1:c.145-5788G>C	ENSP00000498863.1:n.145-5788G>C
ENST00000284165.10:c.*1646G>C	ENSP00000284165.6:n.*1646G>C
ENST00000341653.6:c.171+17551G>C	ENSP00000342482.2:n.171+17551G>C
ENST00000358402.8:c.*319G>C	ENSP00000351175.4:n.*319G>C
ENST00000358664.8:c.*319G>C	ENSP00000351490.4:n.*319G>C
ENST00000394606.6:c.*575G>C	ENSP00000378104.2:n.*575G>C
ENST00000555419.5:c.694G>C	ENSP00000452405.1:n.694G>C
ENST00000555932.5:c.*294G>C	ENSP00000450763.1:n.*294G>C
ENST00000618858.4:c.*591G>C	ENSP00000480127.1:n.*591G>C
NM_001271069.1:c.144+17551G>C	NP_001257998.1:n.144+17551G>C
NM_002382.4:c.*319G>C	NP_002373.3:n.*319G>C
NM_145112.2:c.*319G>C	NP_660087.1:n.*319G>C
NM_145113.2:c.*591G>C	NP_660088.1:n.*591G>C
NM_197957.3:c.171+17551G>C	NP_932061.1:n.171+17551G>C
NR_073137.1:n.926G>C
XR_429315.2:n.1089G>C
NM_001320415.1:c.*319G>C	NP_001307344.1:n.*319G>C
XM_017021312.2:c.*319G>C	XP_016876801.1:n.*319G>C
XM_017021313.1:c.*319G>C	XP_016876802.1:n.*319G>C
XR_001750326.2:n.1147G>C
XR_001750327.2:n.1066G>C
XR_002957553.1:n.1580G>C
XR_943450.3:n.1170G>C
XR_943451.3:n.1186G>C
XR_943452.3:n.1131G>C
NM_001320415.2:c.*319G>C	NP_001307344.1:n.*319G>C
NM_002382.5:c.*319G>C MANE Select	NP_002373.3:n.*319G>C
NM_145112.3:c.*319G>C	NP_660087.1:n.*319G>C
NM_145113.3:c.*591G>C	NP_660088.1:n.*591G>C
NM_001271069.2:c.144+17551G>C	NP_001257998.1:n.144+17551G>C
NM_197957.4:c.171+17551G>C	NP_932061.1:n.171+17551G>C