Canonical Allele Identifier: CA262716355

Gene: MAX

Linked Data

• dbSNP Id: rs988185683
• gnomAD v4: 14-65075424-G-A
• MyVariant Identifiers: chr14:g.65542142G>A (hg19) ; chr14:g.65075424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075424G>A , CM000676.2:g.65075424G>A	GRCh38
NC_000014.8:g.65542142G>A , CM000676.1:g.65542142G>A	GRCh37
NC_000014.7:g.64611895G>A	NCBI36
NG_029830.1:g.32086C>T , LRG_530:g.32086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*1988C>T	ENSP00000452378.1:n.*1988C>T
ENST00000358664.9:c.*1052C>T MANE Select	ENSP00000351490.4:n.*1052C>T
ENST00000651648.1:c.145-5055C>T	ENSP00000498863.1:n.145-5055C>T
ENST00000284165.10:c.*2379C>T	ENSP00000284165.6:n.*2379C>T
ENST00000341653.6:c.171+18284C>T	ENSP00000342482.2:n.171+18284C>T
ENST00000358402.8:c.*1052C>T	ENSP00000351175.4:n.*1052C>T
ENST00000394606.6:c.*1308C>T	ENSP00000378104.2:n.*1308C>T
ENST00000555932.5:c.*1027C>T	ENSP00000450763.1:n.*1027C>T
ENST00000618858.4:c.*1324C>T	ENSP00000480127.1:n.*1324C>T
NM_001271069.1:c.144+18284C>T	NP_001257998.1:n.144+18284C>T
NM_002382.4:c.*1052C>T	NP_002373.3:n.*1052C>T
NM_145112.2:c.*1052C>T	NP_660087.1:n.*1052C>T
NM_145113.2:c.*1324C>T	NP_660088.1:n.*1324C>T
NM_197957.3:c.171+18284C>T	NP_932061.1:n.171+18284C>T
NR_073137.1:n.1659C>T
XR_429315.2:n.1822C>T
NM_001320415.1:c.*1052C>T	NP_001307344.1:n.*1052C>T
XM_017021312.2:c.*1052C>T	XP_016876801.1:n.*1052C>T
XM_017021313.1:c.*1052C>T	XP_016876802.1:n.*1052C>T
XR_001750326.2:n.1880C>T
XR_001750327.2:n.1799C>T
XR_002957553.1:n.2313C>T
XR_943450.3:n.1903C>T
XR_943451.3:n.1919C>T
XR_943452.3:n.1864C>T
NM_001320415.2:c.*1052C>T	NP_001307344.1:n.*1052C>T
NM_002382.5:c.*1052C>T MANE Select	NP_002373.3:n.*1052C>T
NM_145112.3:c.*1052C>T	NP_660087.1:n.*1052C>T
NM_145113.3:c.*1324C>T	NP_660088.1:n.*1324C>T
NM_001271069.2:c.144+18284C>T	NP_001257998.1:n.144+18284C>T
NM_197957.4:c.171+18284C>T	NP_932061.1:n.171+18284C>T