Canonical Allele Identifier: CA7232791

Gene: MAX

Linked Data

• ClinVar Variation Id: 404103
• ClinVar RCV Id: RCV000464530 ; RCV002329013 ; RCV003236801
• dbSNP Id: rs772397458
• ExAC: 14:65543262 C / T
• gnomAD v2: 14-65543262-C-T
• gnomAD v3: 14-65076544-C-T
• gnomAD v4: 14-65076544-C-T
• MyVariant Identifiers: chr14:g.65543262C>T (hg19) ; chr14:g.65076544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076544C>T , CM000676.2:g.65076544C>T	GRCh38
NC_000014.8:g.65543262C>T , CM000676.1:g.65543262C>T	GRCh37
NC_000014.7:g.64613015C>T	NCBI36
NG_029830.1:g.30966G>A , LRG_530:g.30966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.196G>A	ENSP00000452206.2:p.Asp66Asn
ENST00000556979.6:c.*868G>A	ENSP00000452378.1:n.*868G>A
ENST00000358664.9:c.415G>A MANE Select	ENSP00000351490.4:p.Asp139Asn
ENST00000651648.1:c.145-6175G>A	ENSP00000498863.1:n.145-6175G>A
ENST00000284165.10:c.*1259G>A	ENSP00000284165.6:n.*1259G>A
ENST00000341653.6:c.171+17164G>A	ENSP00000342482.2:n.171+17164G>A
ENST00000358402.8:c.388G>A	ENSP00000351175.4:p.Asp130Asn
ENST00000358664.8:c.415G>A	ENSP00000351490.4:p.Asp139Asn
ENST00000394606.6:c.*188G>A	ENSP00000378104.2:n.*188G>A
ENST00000553928.5:c.*204G>A	ENSP00000451907.1:n.*204G>A
ENST00000555419.5:c.307G>A	ENSP00000452405.1:p.Asp103Asn
ENST00000555932.5:c.156G>A	ENSP00000450763.1:p.Arg52=
ENST00000557277.5:c.226G>A	ENSP00000450955.1:p.Asp76Asn
ENST00000618858.4:c.*204G>A	ENSP00000480127.1:n.*204G>A
NM_001271069.1:c.144+17164G>A	NP_001257998.1:n.144+17164G>A
NM_002382.4:c.415G>A	NP_002373.3:p.Asp139Asn
NM_145112.2:c.388G>A	NP_660087.1:p.Asp130Asn
NM_145113.2:c.*204G>A	NP_660088.1:n.*204G>A
NM_197957.3:c.171+17164G>A	NP_932061.1:n.171+17164G>A
NR_073137.1:n.539G>A
XR_429315.2:n.702G>A
NM_001320415.1:c.226G>A	NP_001307344.1:p.Asp76Asn
XM_017021312.2:c.226G>A	XP_016876801.1:p.Asp76Asn
XM_017021313.1:c.226G>A	XP_016876802.1:p.Asp76Asn
XR_001750326.2:n.760G>A
XR_001750327.2:n.679G>A
XR_002957553.1:n.1193G>A
XR_943450.3:n.783G>A
XR_943451.3:n.799G>A
XR_943452.3:n.744G>A
NM_001320415.2:c.226G>A	NP_001307344.1:p.Asp76Asn
NM_002382.5:c.415G>A MANE Select	NP_002373.3:p.Asp139Asn
NM_145112.3:c.388G>A	NP_660087.1:p.Asp130Asn
NM_145113.3:c.*204G>A	NP_660088.1:n.*204G>A
NM_001271069.2:c.144+17164G>A	NP_001257998.1:n.144+17164G>A
NM_197957.4:c.171+17164G>A	NP_932061.1:n.171+17164G>A