Canonical Allele Identifier: CA390031332

Gene: MAX

Linked Data

• ClinVar Variation Id: 2630458
• ClinVar RCV Id: RCV003402360
• gnomAD v4: 14-65076522-G-C
• MyVariant Identifiers: chr14:g.65543240G>C (hg19) ; chr14:g.65076522G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076522G>C , CM000676.2:g.65076522G>C	GRCh38
NC_000014.8:g.65543240G>C , CM000676.1:g.65543240G>C	GRCh37
NC_000014.7:g.64612993G>C	NCBI36
NG_029830.1:g.30988C>G , LRG_530:g.30988C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.218C>G	ENSP00000452206.2:p.Pro73Arg
ENST00000556979.6:c.*890C>G	ENSP00000452378.1:n.*890C>G
ENST00000358664.9:c.437C>G MANE Select	ENSP00000351490.4:p.Pro146Arg
ENST00000651648.1:c.145-6153C>G	ENSP00000498863.1:n.145-6153C>G
ENST00000284165.10:c.*1281C>G	ENSP00000284165.6:n.*1281C>G
ENST00000341653.6:c.171+17186C>G	ENSP00000342482.2:n.171+17186C>G
ENST00000358402.8:c.410C>G	ENSP00000351175.4:p.Pro137Arg
ENST00000358664.8:c.437C>G	ENSP00000351490.4:p.Pro146Arg
ENST00000394606.6:c.*210C>G	ENSP00000378104.2:n.*210C>G
ENST00000553928.5:c.*226C>G	ENSP00000451907.1:n.*226C>G
ENST00000555419.5:c.329C>G	ENSP00000452405.1:p.Pro110Arg
ENST00000555932.5:c.178C>G	ENSP00000450763.1:p.Leu60Val
ENST00000557277.5:c.248C>G	ENSP00000450955.1:p.Pro83Arg
ENST00000618858.4:c.*226C>G	ENSP00000480127.1:n.*226C>G
NM_001271069.1:c.144+17186C>G	NP_001257998.1:n.144+17186C>G
NM_002382.4:c.437C>G	NP_002373.3:p.Pro146Arg
NM_145112.2:c.410C>G	NP_660087.1:p.Pro137Arg
NM_145113.2:c.*226C>G	NP_660088.1:n.*226C>G
NM_197957.3:c.171+17186C>G	NP_932061.1:n.171+17186C>G
NR_073137.1:n.561C>G
XR_429315.2:n.724C>G
NM_001320415.1:c.248C>G	NP_001307344.1:p.Pro83Arg
XM_017021312.2:c.248C>G	XP_016876801.1:p.Pro83Arg
XM_017021313.1:c.248C>G	XP_016876802.1:p.Pro83Arg
XR_001750326.2:n.782C>G
XR_001750327.2:n.701C>G
XR_002957553.1:n.1215C>G
XR_943450.3:n.805C>G
XR_943451.3:n.821C>G
XR_943452.3:n.766C>G
NM_001320415.2:c.248C>G	NP_001307344.1:p.Pro83Arg
NM_002382.5:c.437C>G MANE Select	NP_002373.3:p.Pro146Arg
NM_145112.3:c.410C>G	NP_660087.1:p.Pro137Arg
NM_145113.3:c.*226C>G	NP_660088.1:n.*226C>G
NM_001271069.2:c.144+17186C>G	NP_001257998.1:n.144+17186C>G
NM_197957.4:c.171+17186C>G	NP_932061.1:n.171+17186C>G