Canonical Allele Identifier: CA262716606

Gene: MAX

Linked Data

• dbSNP Id: rs1051770227
• gnomAD v4: 14-65075817-C-A
• MyVariant Identifiers: chr14:g.65542535C>A (hg19) ; chr14:g.65075817C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075817C>A , CM000676.2:g.65075817C>A	GRCh38
NC_000014.8:g.65542535C>A , CM000676.1:g.65542535C>A	GRCh37
NC_000014.7:g.64612288C>A	NCBI36
NG_029830.1:g.31693G>T , LRG_530:g.31693G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.*659G>T	ENSP00000452206.2:n.*659G>T
ENST00000556979.6:c.*1595G>T	ENSP00000452378.1:n.*1595G>T
ENST00000358664.9:c.*659G>T MANE Select	ENSP00000351490.4:n.*659G>T
ENST00000651648.1:c.145-5448G>T	ENSP00000498863.1:n.145-5448G>T
ENST00000284165.10:c.*1986G>T	ENSP00000284165.6:n.*1986G>T
ENST00000341653.6:c.171+17891G>T	ENSP00000342482.2:n.171+17891G>T
ENST00000358402.8:c.*659G>T	ENSP00000351175.4:n.*659G>T
ENST00000358664.8:c.*659G>T	ENSP00000351490.4:n.*659G>T
ENST00000394606.6:c.*915G>T	ENSP00000378104.2:n.*915G>T
ENST00000555932.5:c.*634G>T	ENSP00000450763.1:n.*634G>T
ENST00000618858.4:c.*931G>T	ENSP00000480127.1:n.*931G>T
NM_001271069.1:c.144+17891G>T	NP_001257998.1:n.144+17891G>T
NM_002382.4:c.*659G>T	NP_002373.3:n.*659G>T
NM_145112.2:c.*659G>T	NP_660087.1:n.*659G>T
NM_145113.2:c.*931G>T	NP_660088.1:n.*931G>T
NM_197957.3:c.171+17891G>T	NP_932061.1:n.171+17891G>T
NR_073137.1:n.1266G>T
XR_429315.2:n.1429G>T
NM_001320415.1:c.*659G>T	NP_001307344.1:n.*659G>T
XM_017021312.2:c.*659G>T	XP_016876801.1:n.*659G>T
XM_017021313.1:c.*659G>T	XP_016876802.1:n.*659G>T
XR_001750326.2:n.1487G>T
XR_001750327.2:n.1406G>T
XR_002957553.1:n.1920G>T
XR_943450.3:n.1510G>T
XR_943451.3:n.1526G>T
XR_943452.3:n.1471G>T
NM_001320415.2:c.*659G>T	NP_001307344.1:n.*659G>T
NM_002382.5:c.*659G>T MANE Select	NP_002373.3:n.*659G>T
NM_145112.3:c.*659G>T	NP_660087.1:n.*659G>T
NM_145113.3:c.*931G>T	NP_660088.1:n.*931G>T
NM_001271069.2:c.144+17891G>T	NP_001257998.1:n.144+17891G>T
NM_197957.4:c.171+17891G>T	NP_932061.1:n.171+17891G>T