Canonical Allele Identifier: CA2142951077

Gene: MAX

Linked Data

• dbSNP Id: rs2063030707
• gnomAD v4: 14-65075347-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075347G>A , CM000676.2:g.65075347G>A	GRCh38
NC_000014.8:g.65542065G>A , CM000676.1:g.65542065G>A	GRCh37
NC_000014.7:g.64611818G>A	NCBI36
NG_029830.1:g.32163C>T , LRG_530:g.32163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*2065C>T	ENSP00000452378.1:n.*2065C>T
ENST00000358664.9:c.*1129C>T MANE Select	ENSP00000351490.4:n.*1129C>T
ENST00000651648.1:c.145-4978C>T	ENSP00000498863.1:n.145-4978C>T
ENST00000284165.10:c.*2456C>T	ENSP00000284165.6:n.*2456C>T
ENST00000341653.6:c.171+18361C>T	ENSP00000342482.2:n.171+18361C>T
ENST00000358402.8:c.*1129C>T	ENSP00000351175.4:n.*1129C>T
ENST00000394606.6:c.*1385C>T	ENSP00000378104.2:n.*1385C>T
ENST00000555932.5:c.*1104C>T	ENSP00000450763.1:n.*1104C>T
ENST00000618858.4:c.*1401C>T	ENSP00000480127.1:n.*1401C>T
NM_001271069.1:c.144+18361C>T	NP_001257998.1:n.144+18361C>T
NM_002382.4:c.*1129C>T	NP_002373.3:n.*1129C>T
NM_145112.2:c.*1129C>T	NP_660087.1:n.*1129C>T
NM_145113.2:c.*1401C>T	NP_660088.1:n.*1401C>T
NM_197957.3:c.171+18361C>T	NP_932061.1:n.171+18361C>T
NR_073137.1:n.1736C>T
XR_429315.2:n.1899C>T
NM_001320415.1:c.*1129C>T	NP_001307344.1:n.*1129C>T
XM_017021312.2:c.*1129C>T	XP_016876801.1:n.*1129C>T
XM_017021313.1:c.*1129C>T	XP_016876802.1:n.*1129C>T
XR_001750326.2:n.1957C>T
XR_001750327.2:n.1876C>T
XR_002957553.1:n.2390C>T
XR_943450.3:n.1980C>T
XR_943451.3:n.1996C>T
XR_943452.3:n.1941C>T
NM_001320415.2:c.*1129C>T	NP_001307344.1:n.*1129C>T
NM_002382.5:c.*1129C>T MANE Select	NP_002373.3:n.*1129C>T
NM_145112.3:c.*1129C>T	NP_660087.1:n.*1129C>T
NM_145113.3:c.*1401C>T	NP_660088.1:n.*1401C>T
NM_001271069.2:c.144+18361C>T	NP_001257998.1:n.144+18361C>T
NM_197957.4:c.171+18361C>T	NP_932061.1:n.171+18361C>T