Canonical Allele Identifier: CA262716796

Gene: MAX

Linked Data

• dbSNP Id: rs894266780
• gnomAD v2: 14-65542841-C-T
• gnomAD v3: 14-65076123-C-T
• gnomAD v4: 14-65076123-C-T
• MyVariant Identifiers: chr14:g.65542841C>T (hg19) ; chr14:g.65076123C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076123C>T , CM000676.2:g.65076123C>T	GRCh38
NC_000014.8:g.65542841C>T , CM000676.1:g.65542841C>T	GRCh37
NC_000014.7:g.64612594C>T	NCBI36
NG_029830.1:g.31387G>A , LRG_530:g.31387G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*353G>A	ENSP00000452206.2:n.*353G>A
ENST00000556979.6:c.*1289G>A	ENSP00000452378.1:n.*1289G>A
ENST00000358664.9:c.*353G>A MANE Select	ENSP00000351490.4:n.*353G>A
ENST00000651648.1:c.145-5754G>A	ENSP00000498863.1:n.145-5754G>A
ENST00000284165.10:c.*1680G>A	ENSP00000284165.6:n.*1680G>A
ENST00000341653.6:c.171+17585G>A	ENSP00000342482.2:n.171+17585G>A
ENST00000358402.8:c.*353G>A	ENSP00000351175.4:n.*353G>A
ENST00000358664.8:c.*353G>A	ENSP00000351490.4:n.*353G>A
ENST00000394606.6:c.*609G>A	ENSP00000378104.2:n.*609G>A
ENST00000555419.5:c.728G>A	ENSP00000452405.1:n.728G>A
ENST00000555932.5:c.*328G>A	ENSP00000450763.1:n.*328G>A
ENST00000618858.4:c.*625G>A	ENSP00000480127.1:n.*625G>A
NM_001271069.1:c.144+17585G>A	NP_001257998.1:n.144+17585G>A
NM_002382.4:c.*353G>A	NP_002373.3:n.*353G>A
NM_145112.2:c.*353G>A	NP_660087.1:n.*353G>A
NM_145113.2:c.*625G>A	NP_660088.1:n.*625G>A
NM_197957.3:c.171+17585G>A	NP_932061.1:n.171+17585G>A
NR_073137.1:n.960G>A
XR_429315.2:n.1123G>A
NM_001320415.1:c.*353G>A	NP_001307344.1:n.*353G>A
XM_017021312.2:c.*353G>A	XP_016876801.1:n.*353G>A
XM_017021313.1:c.*353G>A	XP_016876802.1:n.*353G>A
XR_001750326.2:n.1181G>A
XR_001750327.2:n.1100G>A
XR_002957553.1:n.1614G>A
XR_943450.3:n.1204G>A
XR_943451.3:n.1220G>A
XR_943452.3:n.1165G>A
NM_001320415.2:c.*353G>A	NP_001307344.1:n.*353G>A
NM_002382.5:c.*353G>A MANE Select	NP_002373.3:n.*353G>A
NM_145112.3:c.*353G>A	NP_660087.1:n.*353G>A
NM_145113.3:c.*625G>A	NP_660088.1:n.*625G>A
NM_001271069.2:c.144+17585G>A	NP_001257998.1:n.144+17585G>A
NM_197957.4:c.171+17585G>A	NP_932061.1:n.171+17585G>A