Canonical Allele Identifier: CA390031857

Gene: MAX

Linked Data

• ClinVar Variation Id: 823675
• ClinVar RCV Id: RCV001020113 ; RCV001477057
• dbSNP Id: rs1595127306
• gnomAD v4: 14-65076623-C-T
• MyVariant Identifiers: chr14:g.65543341C>T (hg19) ; chr14:g.65076623C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076623C>T , CM000676.2:g.65076623C>T	GRCh38
NC_000014.8:g.65543341C>T , CM000676.1:g.65543341C>T	GRCh37
NC_000014.7:g.64613094C>T	NCBI36
NG_029830.1:g.30887G>A , LRG_530:g.30887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.117G>A	ENSP00000452206.2:p.Gln39=
ENST00000556979.6:c.*789G>A	ENSP00000452378.1:n.*789G>A
ENST00000358664.9:c.336G>A MANE Select	ENSP00000351490.4:p.Gln112=
ENST00000651648.1:c.145-6254G>A	ENSP00000498863.1:n.145-6254G>A
ENST00000284165.10:c.*1180G>A	ENSP00000284165.6:n.*1180G>A
ENST00000341653.6:c.171+17085G>A	ENSP00000342482.2:n.171+17085G>A
ENST00000358402.8:c.309G>A	ENSP00000351175.4:p.Gln103=
ENST00000358664.8:c.336G>A	ENSP00000351490.4:p.Gln112=
ENST00000394606.6:c.*109G>A	ENSP00000378104.2:n.*109G>A
ENST00000553928.5:c.*125G>A	ENSP00000451907.1:n.*125G>A
ENST00000555419.5:c.228G>A	ENSP00000452405.1:p.Gln76=
ENST00000555932.5:c.77G>A	ENSP00000450763.1:p.Arg26Lys
ENST00000556892.5:c.117G>A	ENSP00000452206.1:p.Gln39=
ENST00000557277.5:c.147G>A	ENSP00000450955.1:p.Gln49=
ENST00000618858.4:c.*125G>A	ENSP00000480127.1:n.*125G>A
NM_001271069.1:c.144+17085G>A	NP_001257998.1:n.144+17085G>A
NM_002382.4:c.336G>A	NP_002373.3:p.Gln112=
NM_145112.2:c.309G>A	NP_660087.1:p.Gln103=
NM_145113.2:c.*125G>A	NP_660088.1:n.*125G>A
NM_197957.3:c.171+17085G>A	NP_932061.1:n.171+17085G>A
NR_073137.1:n.460G>A
XR_429315.2:n.623G>A
XR_943450.1:n.704G>A
XR_943451.1:n.720G>A
XR_943452.1:n.666G>A
NM_001320415.1:c.147G>A	NP_001307344.1:p.Gln49=
XM_017021312.2:c.147G>A	XP_016876801.1:p.Gln49=
XM_017021313.1:c.147G>A	XP_016876802.1:p.Gln49=
XR_001750326.2:n.681G>A
XR_001750327.2:n.600G>A
XR_002957553.1:n.1114G>A
XR_943450.3:n.704G>A
XR_943451.3:n.720G>A
XR_943452.3:n.665G>A
NM_001320415.2:c.147G>A	NP_001307344.1:p.Gln49=
NM_002382.5:c.336G>A MANE Select	NP_002373.3:p.Gln112=
NM_145112.3:c.309G>A	NP_660087.1:p.Gln103=
NM_145113.3:c.*125G>A	NP_660088.1:n.*125G>A
NM_001271069.2:c.144+17085G>A	NP_001257998.1:n.144+17085G>A
NM_197957.4:c.171+17085G>A	NP_932061.1:n.171+17085G>A