Canonical Allele Identifier: CA390031247

Gene: MAX

Linked Data

• ClinVar Variation Id: 1636775
• ClinVar RCV Id: RCV002128618 ; RCV002337352
• dbSNP Id: rs2063058995
• gnomAD v3: 14-65076509-T-C
• gnomAD v4: 14-65076509-T-C
• MyVariant Identifiers: chr14:g.65543227T>C (hg19) ; chr14:g.65076509T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076509T>C , CM000676.2:g.65076509T>C	GRCh38
NC_000014.8:g.65543227T>C , CM000676.1:g.65543227T>C	GRCh37
NC_000014.7:g.64612980T>C	NCBI36
NG_029830.1:g.31001A>G , LRG_530:g.31001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.231A>G	ENSP00000452206.2:p.Gln77=
ENST00000556979.6:c.*903A>G	ENSP00000452378.1:n.*903A>G
ENST00000358664.9:c.450A>G MANE Select	ENSP00000351490.4:p.Gln150=
ENST00000651648.1:c.145-6140A>G	ENSP00000498863.1:n.145-6140A>G
ENST00000284165.10:c.*1294A>G	ENSP00000284165.6:n.*1294A>G
ENST00000341653.6:c.171+17199A>G	ENSP00000342482.2:n.171+17199A>G
ENST00000358402.8:c.423A>G	ENSP00000351175.4:p.Gln141=
ENST00000358664.8:c.450A>G	ENSP00000351490.4:p.Gln150=
ENST00000394606.6:c.*223A>G	ENSP00000378104.2:n.*223A>G
ENST00000553928.5:c.*239A>G	ENSP00000451907.1:n.*239A>G
ENST00000555419.5:c.342A>G	ENSP00000452405.1:p.Gln114=
ENST00000555932.5:c.191A>G	ENSP00000450763.1:p.Lys64Arg
ENST00000557277.5:c.261A>G	ENSP00000450955.1:p.Gln87=
ENST00000618858.4:c.*239A>G	ENSP00000480127.1:n.*239A>G
NM_001271069.1:c.144+17199A>G	NP_001257998.1:n.144+17199A>G
NM_002382.4:c.450A>G	NP_002373.3:p.Gln150=
NM_145112.2:c.423A>G	NP_660087.1:p.Gln141=
NM_145113.2:c.*239A>G	NP_660088.1:n.*239A>G
NM_197957.3:c.171+17199A>G	NP_932061.1:n.171+17199A>G
NR_073137.1:n.574A>G
XR_429315.2:n.737A>G
NM_001320415.1:c.261A>G	NP_001307344.1:p.Gln87=
XM_017021312.2:c.261A>G	XP_016876801.1:p.Gln87=
XM_017021313.1:c.261A>G	XP_016876802.1:p.Gln87=
XR_001750326.2:n.795A>G
XR_001750327.2:n.714A>G
XR_002957553.1:n.1228A>G
XR_943450.3:n.818A>G
XR_943451.3:n.834A>G
XR_943452.3:n.779A>G
NM_001320415.2:c.261A>G	NP_001307344.1:p.Gln87=
NM_002382.5:c.450A>G MANE Select	NP_002373.3:p.Gln150=
NM_145112.3:c.423A>G	NP_660087.1:p.Gln141=
NM_145113.3:c.*239A>G	NP_660088.1:n.*239A>G
NM_001271069.2:c.144+17199A>G	NP_001257998.1:n.144+17199A>G
NM_197957.4:c.171+17199A>G	NP_932061.1:n.171+17199A>G