Canonical Allele Identifier: CA707784936

Gene: MAX

Linked Data

• dbSNP Id: rs1415381767
• gnomAD v3: 14-65076417-G-A
• gnomAD v4: 14-65076417-G-A
• MyVariant Identifiers: chr14:g.65543135G>A (hg19) ; chr14:g.65076417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076417G>A , CM000676.2:g.65076417G>A	GRCh38
NC_000014.8:g.65543135G>A , CM000676.1:g.65543135G>A	GRCh37
NC_000014.7:g.64612888G>A	NCBI36
NG_029830.1:g.31093C>T , LRG_530:g.31093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*59C>T	ENSP00000452206.2:n.*59C>T
ENST00000556979.6:c.*995C>T	ENSP00000452378.1:n.*995C>T
ENST00000358664.9:c.*59C>T MANE Select	ENSP00000351490.4:n.*59C>T
ENST00000651648.1:c.145-6048C>T	ENSP00000498863.1:n.145-6048C>T
ENST00000284165.10:c.*1386C>T	ENSP00000284165.6:n.*1386C>T
ENST00000341653.6:c.171+17291C>T	ENSP00000342482.2:n.171+17291C>T
ENST00000358402.8:c.*59C>T	ENSP00000351175.4:n.*59C>T
ENST00000358664.8:c.*59C>T	ENSP00000351490.4:n.*59C>T
ENST00000394606.6:c.*315C>T	ENSP00000378104.2:n.*315C>T
ENST00000555419.5:c.434C>T	ENSP00000452405.1:n.434C>T
ENST00000555932.5:c.*34C>T	ENSP00000450763.1:n.*34C>T
ENST00000618858.4:c.*331C>T	ENSP00000480127.1:n.*331C>T
NM_001271069.1:c.144+17291C>T	NP_001257998.1:n.144+17291C>T
NM_002382.4:c.*59C>T	NP_002373.3:n.*59C>T
NM_145112.2:c.*59C>T	NP_660087.1:n.*59C>T
NM_145113.2:c.*331C>T	NP_660088.1:n.*331C>T
NM_197957.3:c.171+17291C>T	NP_932061.1:n.171+17291C>T
NR_073137.1:n.666C>T
XR_429315.2:n.829C>T
NM_001320415.1:c.*59C>T	NP_001307344.1:n.*59C>T
XM_017021312.2:c.*59C>T	XP_016876801.1:n.*59C>T
XM_017021313.1:c.*59C>T	XP_016876802.1:n.*59C>T
XR_001750326.2:n.887C>T
XR_001750327.2:n.806C>T
XR_002957553.1:n.1320C>T
XR_943450.3:n.910C>T
XR_943451.3:n.926C>T
XR_943452.3:n.871C>T
NM_001320415.2:c.*59C>T	NP_001307344.1:n.*59C>T
NM_002382.5:c.*59C>T MANE Select	NP_002373.3:n.*59C>T
NM_145112.3:c.*59C>T	NP_660087.1:n.*59C>T
NM_145113.3:c.*331C>T	NP_660088.1:n.*331C>T
NM_001271069.2:c.144+17291C>T	NP_001257998.1:n.144+17291C>T
NM_197957.4:c.171+17291C>T	NP_932061.1:n.171+17291C>T