Canonical Allele Identifier: CA262716410

Gene: MAX

Linked Data

• dbSNP Id: rs574183061
• gnomAD v2: 14-65542199-C-T
• gnomAD v3: 14-65075481-C-T
• gnomAD v4: 14-65075481-C-T
• MyVariant Identifiers: chr14:g.65542199C>T (hg19) ; chr14:g.65075481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075481C>T , CM000676.2:g.65075481C>T	GRCh38
NC_000014.8:g.65542199C>T , CM000676.1:g.65542199C>T	GRCh37
NC_000014.7:g.64611952C>T	NCBI36
NG_029830.1:g.32029G>A , LRG_530:g.32029G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000556979.6:c.*1931G>A	ENSP00000452378.1:n.*1931G>A
ENST00000358664.9:c.*995G>A MANE Select	ENSP00000351490.4:n.*995G>A
ENST00000651648.1:c.145-5112G>A	ENSP00000498863.1:n.145-5112G>A
ENST00000284165.10:c.*2322G>A	ENSP00000284165.6:n.*2322G>A
ENST00000341653.6:c.171+18227G>A	ENSP00000342482.2:n.171+18227G>A
ENST00000358402.8:c.*995G>A	ENSP00000351175.4:n.*995G>A
ENST00000394606.6:c.*1251G>A	ENSP00000378104.2:n.*1251G>A
ENST00000555932.5:c.*970G>A	ENSP00000450763.1:n.*970G>A
ENST00000618858.4:c.*1267G>A	ENSP00000480127.1:n.*1267G>A
NM_001271069.1:c.144+18227G>A	NP_001257998.1:n.144+18227G>A
NM_002382.4:c.*995G>A	NP_002373.3:n.*995G>A
NM_145112.2:c.*995G>A	NP_660087.1:n.*995G>A
NM_145113.2:c.*1267G>A	NP_660088.1:n.*1267G>A
NM_197957.3:c.171+18227G>A	NP_932061.1:n.171+18227G>A
NR_073137.1:n.1602G>A
XR_429315.2:n.1765G>A
NM_001320415.1:c.*995G>A	NP_001307344.1:n.*995G>A
XM_017021312.2:c.*995G>A	XP_016876801.1:n.*995G>A
XM_017021313.1:c.*995G>A	XP_016876802.1:n.*995G>A
XR_001750326.2:n.1823G>A
XR_001750327.2:n.1742G>A
XR_002957553.1:n.2256G>A
XR_943450.3:n.1846G>A
XR_943451.3:n.1862G>A
XR_943452.3:n.1807G>A
NM_001320415.2:c.*995G>A	NP_001307344.1:n.*995G>A
NM_002382.5:c.*995G>A MANE Select	NP_002373.3:n.*995G>A
NM_145112.3:c.*995G>A	NP_660087.1:n.*995G>A
NM_145113.3:c.*1267G>A	NP_660088.1:n.*1267G>A
NM_001271069.2:c.144+18227G>A	NP_001257998.1:n.144+18227G>A
NM_197957.4:c.171+18227G>A	NP_932061.1:n.171+18227G>A