Canonical Allele Identifier: CA10635096

Gene: MAX

Linked Data

• ClinVar Variation Id: 313800
• ClinVar RCV Id: RCV000391090
• dbSNP Id: rs117802316
• gnomAD v2: 14-65542591-G-C
• gnomAD v3: 14-65075873-G-C
• gnomAD v4: 14-65075873-G-C
• MyVariant Identifiers: chr14:g.65542591G>C (hg19) ; chr14:g.65075873G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075873G>C , CM000676.2:g.65075873G>C	GRCh38
NC_000014.8:g.65542591G>C , CM000676.1:g.65542591G>C	GRCh37
NC_000014.7:g.64612344G>C	NCBI36
NG_029830.1:g.31637C>G , LRG_530:g.31637C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.*603C>G	ENSP00000452206.2:n.*603C>G
ENST00000556979.6:c.*1539C>G	ENSP00000452378.1:n.*1539C>G
ENST00000358664.9:c.*603C>G MANE Select	ENSP00000351490.4:n.*603C>G
ENST00000651648.1:c.145-5504C>G	ENSP00000498863.1:n.145-5504C>G
ENST00000284165.10:c.*1930C>G	ENSP00000284165.6:n.*1930C>G
ENST00000341653.6:c.171+17835C>G	ENSP00000342482.2:n.171+17835C>G
ENST00000358402.8:c.*603C>G	ENSP00000351175.4:n.*603C>G
ENST00000358664.8:c.*603C>G	ENSP00000351490.4:n.*603C>G
ENST00000394606.6:c.*859C>G	ENSP00000378104.2:n.*859C>G
ENST00000555932.5:c.*578C>G	ENSP00000450763.1:n.*578C>G
ENST00000618858.4:c.*875C>G	ENSP00000480127.1:n.*875C>G
NM_001271069.1:c.144+17835C>G	NP_001257998.1:n.144+17835C>G
NM_002382.4:c.*603C>G	NP_002373.3:n.*603C>G
NM_145112.2:c.*603C>G	NP_660087.1:n.*603C>G
NM_145113.2:c.*875C>G	NP_660088.1:n.*875C>G
NM_197957.3:c.171+17835C>G	NP_932061.1:n.171+17835C>G
NR_073137.1:n.1210C>G
XR_429315.2:n.1373C>G
NM_001320415.1:c.*603C>G	NP_001307344.1:n.*603C>G
XM_017021312.2:c.*603C>G	XP_016876801.1:n.*603C>G
XM_017021313.1:c.*603C>G	XP_016876802.1:n.*603C>G
XR_001750326.2:n.1431C>G
XR_001750327.2:n.1350C>G
XR_002957553.1:n.1864C>G
XR_943450.3:n.1454C>G
XR_943451.3:n.1470C>G
XR_943452.3:n.1415C>G
NM_001320415.2:c.*603C>G	NP_001307344.1:n.*603C>G
NM_002382.5:c.*603C>G MANE Select	NP_002373.3:n.*603C>G
NM_145112.3:c.*603C>G	NP_660087.1:n.*603C>G
NM_145113.3:c.*875C>G	NP_660088.1:n.*875C>G
NM_001271069.2:c.144+17835C>G	NP_001257998.1:n.144+17835C>G
NM_197957.4:c.171+17835C>G	NP_932061.1:n.171+17835C>G