Canonical Allele Identifier: CA7232785

Gene: MAX

Linked Data

• ClinVar Variation Id: 647774
• ClinVar RCV Id: RCV000802353 ; RCV001022874 ; RCV001292850
• dbSNP Id: rs768360710
• ExAC: 14:65543211 G / A
• gnomAD v2: 14-65543211-G-A
• gnomAD v3: 14-65076493-G-A
• gnomAD v4: 14-65076493-G-A
• MyVariant Identifiers: chr14:g.65543211G>A (hg19) ; chr14:g.65076493G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076493G>A , CM000676.2:g.65076493G>A	GRCh38
NC_000014.8:g.65543211G>A , CM000676.1:g.65543211G>A	GRCh37
NC_000014.7:g.64612964G>A	NCBI36
NG_029830.1:g.31017C>T , LRG_530:g.31017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.247C>T	ENSP00000452206.2:p.Arg83Trp
ENST00000556979.6:c.*919C>T	ENSP00000452378.1:n.*919C>T
ENST00000358664.9:c.466C>T MANE Select	ENSP00000351490.4:p.Arg156Trp
ENST00000651648.1:c.145-6124C>T	ENSP00000498863.1:n.145-6124C>T
ENST00000284165.10:c.*1310C>T	ENSP00000284165.6:n.*1310C>T
ENST00000341653.6:c.171+17215C>T	ENSP00000342482.2:n.171+17215C>T
ENST00000358402.8:c.439C>T	ENSP00000351175.4:p.Arg147Trp
ENST00000358664.8:c.466C>T	ENSP00000351490.4:p.Arg156Trp
ENST00000394606.6:c.*239C>T	ENSP00000378104.2:n.*239C>T
ENST00000553928.5:c.*255C>T	ENSP00000451907.1:n.*255C>T
ENST00000555419.5:c.358C>T	ENSP00000452405.1:p.Arg120Trp
ENST00000555932.5:c.207C>T	ENSP00000450763.1:p.Ser69=
ENST00000557277.5:c.277C>T	ENSP00000450955.1:p.Arg93Trp
ENST00000618858.4:c.*255C>T	ENSP00000480127.1:n.*255C>T
NM_001271069.1:c.144+17215C>T	NP_001257998.1:n.144+17215C>T
NM_002382.4:c.466C>T	NP_002373.3:p.Arg156Trp
NM_145112.2:c.439C>T	NP_660087.1:p.Arg147Trp
NM_145113.2:c.*255C>T	NP_660088.1:n.*255C>T
NM_197957.3:c.171+17215C>T	NP_932061.1:n.171+17215C>T
NR_073137.1:n.590C>T
XR_429315.2:n.753C>T
NM_001320415.1:c.277C>T	NP_001307344.1:p.Arg93Trp
XM_017021312.2:c.277C>T	XP_016876801.1:p.Arg93Trp
XM_017021313.1:c.277C>T	XP_016876802.1:p.Arg93Trp
XR_001750326.2:n.811C>T
XR_001750327.2:n.730C>T
XR_002957553.1:n.1244C>T
XR_943450.3:n.834C>T
XR_943451.3:n.850C>T
XR_943452.3:n.795C>T
NM_001320415.2:c.277C>T	NP_001307344.1:p.Arg93Trp
NM_002382.5:c.466C>T MANE Select	NP_002373.3:p.Arg156Trp
NM_145112.3:c.439C>T	NP_660087.1:p.Arg147Trp
NM_145113.3:c.*255C>T	NP_660088.1:n.*255C>T
NM_001271069.2:c.144+17215C>T	NP_001257998.1:n.144+17215C>T
NM_197957.4:c.171+17215C>T	NP_932061.1:n.171+17215C>T