Canonical Allele Identifier: CA2142951455

Gene: MAX

Linked Data

• dbSNP Id: rs2063050366
• gnomAD v4: 14-65076161-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076161G>A , CM000676.2:g.65076161G>A	GRCh38
NC_000014.8:g.65542879G>A , CM000676.1:g.65542879G>A	GRCh37
NC_000014.7:g.64612632G>A	NCBI36
NG_029830.1:g.31349C>T , LRG_530:g.31349C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*315C>T	ENSP00000452206.2:n.*315C>T
ENST00000556979.6:c.*1251C>T	ENSP00000452378.1:n.*1251C>T
ENST00000358664.9:c.*315C>T MANE Select	ENSP00000351490.4:n.*315C>T
ENST00000651648.1:c.145-5792C>T	ENSP00000498863.1:n.145-5792C>T
ENST00000284165.10:c.*1642C>T	ENSP00000284165.6:n.*1642C>T
ENST00000341653.6:c.171+17547C>T	ENSP00000342482.2:n.171+17547C>T
ENST00000358402.8:c.*315C>T	ENSP00000351175.4:n.*315C>T
ENST00000358664.8:c.*315C>T	ENSP00000351490.4:n.*315C>T
ENST00000394606.6:c.*571C>T	ENSP00000378104.2:n.*571C>T
ENST00000555419.5:c.690C>T	ENSP00000452405.1:n.690C>T
ENST00000555932.5:c.*290C>T	ENSP00000450763.1:n.*290C>T
ENST00000618858.4:c.*587C>T	ENSP00000480127.1:n.*587C>T
NM_001271069.1:c.144+17547C>T	NP_001257998.1:n.144+17547C>T
NM_002382.4:c.*315C>T	NP_002373.3:n.*315C>T
NM_145112.2:c.*315C>T	NP_660087.1:n.*315C>T
NM_145113.2:c.*587C>T	NP_660088.1:n.*587C>T
NM_197957.3:c.171+17547C>T	NP_932061.1:n.171+17547C>T
NR_073137.1:n.922C>T
XR_429315.2:n.1085C>T
NM_001320415.1:c.*315C>T	NP_001307344.1:n.*315C>T
XM_017021312.2:c.*315C>T	XP_016876801.1:n.*315C>T
XM_017021313.1:c.*315C>T	XP_016876802.1:n.*315C>T
XR_001750326.2:n.1143C>T
XR_001750327.2:n.1062C>T
XR_002957553.1:n.1576C>T
XR_943450.3:n.1166C>T
XR_943451.3:n.1182C>T
XR_943452.3:n.1127C>T
NM_001320415.2:c.*315C>T	NP_001307344.1:n.*315C>T
NM_002382.5:c.*315C>T MANE Select	NP_002373.3:n.*315C>T
NM_145112.3:c.*315C>T	NP_660087.1:n.*315C>T
NM_145113.3:c.*587C>T	NP_660088.1:n.*587C>T
NM_001271069.2:c.144+17547C>T	NP_001257998.1:n.144+17547C>T
NM_197957.4:c.171+17547C>T	NP_932061.1:n.171+17547C>T