Canonical Allele Identifier: CA614436371

Gene: MAX

Linked Data

• dbSNP Id: rs1284746502
• gnomAD v2: 14-65542136-G-A
• gnomAD v3: 14-65075418-G-A
• gnomAD v4: 14-65075418-G-A
• MyVariant Identifiers: chr14:g.65542136G>A (hg19) ; chr14:g.65075418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075418G>A , CM000676.2:g.65075418G>A	GRCh38
NC_000014.8:g.65542136G>A , CM000676.1:g.65542136G>A	GRCh37
NC_000014.7:g.64611889G>A	NCBI36
NG_029830.1:g.32092C>T , LRG_530:g.32092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*1994C>T	ENSP00000452378.1:n.*1994C>T
ENST00000358664.9:c.*1058C>T MANE Select	ENSP00000351490.4:n.*1058C>T
ENST00000651648.1:c.145-5049C>T	ENSP00000498863.1:n.145-5049C>T
ENST00000284165.10:c.*2385C>T	ENSP00000284165.6:n.*2385C>T
ENST00000341653.6:c.171+18290C>T	ENSP00000342482.2:n.171+18290C>T
ENST00000358402.8:c.*1058C>T	ENSP00000351175.4:n.*1058C>T
ENST00000394606.6:c.*1314C>T	ENSP00000378104.2:n.*1314C>T
ENST00000555932.5:c.*1033C>T	ENSP00000450763.1:n.*1033C>T
ENST00000618858.4:c.*1330C>T	ENSP00000480127.1:n.*1330C>T
NM_001271069.1:c.144+18290C>T	NP_001257998.1:n.144+18290C>T
NM_002382.4:c.*1058C>T	NP_002373.3:n.*1058C>T
NM_145112.2:c.*1058C>T	NP_660087.1:n.*1058C>T
NM_145113.2:c.*1330C>T	NP_660088.1:n.*1330C>T
NM_197957.3:c.171+18290C>T	NP_932061.1:n.171+18290C>T
NR_073137.1:n.1665C>T
XR_429315.2:n.1828C>T
NM_001320415.1:c.*1058C>T	NP_001307344.1:n.*1058C>T
XM_017021312.2:c.*1058C>T	XP_016876801.1:n.*1058C>T
XM_017021313.1:c.*1058C>T	XP_016876802.1:n.*1058C>T
XR_001750326.2:n.1886C>T
XR_001750327.2:n.1805C>T
XR_002957553.1:n.2319C>T
XR_943450.3:n.1909C>T
XR_943451.3:n.1925C>T
XR_943452.3:n.1870C>T
NM_001320415.2:c.*1058C>T	NP_001307344.1:n.*1058C>T
NM_002382.5:c.*1058C>T MANE Select	NP_002373.3:n.*1058C>T
NM_145112.3:c.*1058C>T	NP_660087.1:n.*1058C>T
NM_145113.3:c.*1330C>T	NP_660088.1:n.*1330C>T
NM_001271069.2:c.144+18290C>T	NP_001257998.1:n.144+18290C>T
NM_197957.4:c.171+18290C>T	NP_932061.1:n.171+18290C>T