Canonical Allele Identifier: CA614436379

Gene: MAX

Linked Data

• dbSNP Id: rs1242047056
• gnomAD v2: 14-65542214-T-C
• gnomAD v3: 14-65075496-T-C
• gnomAD v4: 14-65075496-T-C
• MyVariant Identifiers: chr14:g.65542214T>C (hg19) ; chr14:g.65075496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075496T>C , CM000676.2:g.65075496T>C	GRCh38
NC_000014.8:g.65542214T>C , CM000676.1:g.65542214T>C	GRCh37
NC_000014.7:g.64611967T>C	NCBI36
NG_029830.1:g.32014A>G , LRG_530:g.32014A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*1916A>G	ENSP00000452378.1:n.*1916A>G
ENST00000358664.9:c.*980A>G MANE Select	ENSP00000351490.4:n.*980A>G
ENST00000651648.1:c.145-5127A>G	ENSP00000498863.1:n.145-5127A>G
ENST00000284165.10:c.*2307A>G	ENSP00000284165.6:n.*2307A>G
ENST00000341653.6:c.171+18212A>G	ENSP00000342482.2:n.171+18212A>G
ENST00000358402.8:c.*980A>G	ENSP00000351175.4:n.*980A>G
ENST00000394606.6:c.*1236A>G	ENSP00000378104.2:n.*1236A>G
ENST00000555932.5:c.*955A>G	ENSP00000450763.1:n.*955A>G
ENST00000618858.4:c.*1252A>G	ENSP00000480127.1:n.*1252A>G
NM_001271069.1:c.144+18212A>G	NP_001257998.1:n.144+18212A>G
NM_002382.4:c.*980A>G	NP_002373.3:n.*980A>G
NM_145112.2:c.*980A>G	NP_660087.1:n.*980A>G
NM_145113.2:c.*1252A>G	NP_660088.1:n.*1252A>G
NM_197957.3:c.171+18212A>G	NP_932061.1:n.171+18212A>G
NR_073137.1:n.1587A>G
XR_429315.2:n.1750A>G
NM_001320415.1:c.*980A>G	NP_001307344.1:n.*980A>G
XM_017021312.2:c.*980A>G	XP_016876801.1:n.*980A>G
XM_017021313.1:c.*980A>G	XP_016876802.1:n.*980A>G
XR_001750326.2:n.1808A>G
XR_001750327.2:n.1727A>G
XR_002957553.1:n.2241A>G
XR_943450.3:n.1831A>G
XR_943451.3:n.1847A>G
XR_943452.3:n.1792A>G
NM_001320415.2:c.*980A>G	NP_001307344.1:n.*980A>G
NM_002382.5:c.*980A>G MANE Select	NP_002373.3:n.*980A>G
NM_145112.3:c.*980A>G	NP_660087.1:n.*980A>G
NM_145113.3:c.*1252A>G	NP_660088.1:n.*1252A>G
NM_001271069.2:c.144+18212A>G	NP_001257998.1:n.144+18212A>G
NM_197957.4:c.171+18212A>G	NP_932061.1:n.171+18212A>G