Canonical Allele Identifier: CA390031790

Gene: MAX

Linked Data

• ClinVar Variation Id: 823984
• ClinVar RCV Id: RCV001020715
• dbSNP Id: rs1555340209
• gnomAD v4: 14-65076599-G-A
• MyVariant Identifiers: chr14:g.65543317G>A (hg19) ; chr14:g.65076599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076599G>A , CM000676.2:g.65076599G>A	GRCh38
NC_000014.8:g.65543317G>A , CM000676.1:g.65543317G>A	GRCh37
NC_000014.7:g.64613070G>A	NCBI36
NG_029830.1:g.30911C>T , LRG_530:g.30911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.141C>T	ENSP00000452206.2:p.Asn47=
ENST00000556979.6:c.*813C>T	ENSP00000452378.1:n.*813C>T
ENST00000358664.9:c.360C>T MANE Select	ENSP00000351490.4:p.Asn120=
ENST00000651648.1:c.145-6230C>T	ENSP00000498863.1:n.145-6230C>T
ENST00000284165.10:c.*1204C>T	ENSP00000284165.6:n.*1204C>T
ENST00000341653.6:c.171+17109C>T	ENSP00000342482.2:n.171+17109C>T
ENST00000358402.8:c.333C>T	ENSP00000351175.4:p.Asn111=
ENST00000358664.8:c.360C>T	ENSP00000351490.4:p.Asn120=
ENST00000394606.6:c.*133C>T	ENSP00000378104.2:n.*133C>T
ENST00000553928.5:c.*149C>T	ENSP00000451907.1:n.*149C>T
ENST00000555419.5:c.252C>T	ENSP00000452405.1:p.Asn84=
ENST00000555932.5:c.101C>T	ENSP00000450763.1:p.Thr34Ile
ENST00000557277.5:c.171C>T	ENSP00000450955.1:p.Asn57=
ENST00000618858.4:c.*149C>T	ENSP00000480127.1:n.*149C>T
NM_001271069.1:c.144+17109C>T	NP_001257998.1:n.144+17109C>T
NM_002382.4:c.360C>T	NP_002373.3:p.Asn120=
NM_145112.2:c.333C>T	NP_660087.1:p.Asn111=
NM_145113.2:c.*149C>T	NP_660088.1:n.*149C>T
NM_197957.3:c.171+17109C>T	NP_932061.1:n.171+17109C>T
NR_073137.1:n.484C>T
XR_429315.2:n.647C>T
XR_943450.1:n.728C>T
XR_943451.1:n.744C>T
XR_943452.1:n.690C>T
NM_001320415.1:c.171C>T	NP_001307344.1:p.Asn57=
XM_017021312.2:c.171C>T	XP_016876801.1:p.Asn57=
XM_017021313.1:c.171C>T	XP_016876802.1:p.Asn57=
XR_001750326.2:n.705C>T
XR_001750327.2:n.624C>T
XR_002957553.1:n.1138C>T
XR_943450.3:n.728C>T
XR_943451.3:n.744C>T
XR_943452.3:n.689C>T
NM_001320415.2:c.171C>T	NP_001307344.1:p.Asn57=
NM_002382.5:c.360C>T MANE Select	NP_002373.3:p.Asn120=
NM_145112.3:c.333C>T	NP_660087.1:p.Asn111=
NM_145113.3:c.*149C>T	NP_660088.1:n.*149C>T
NM_001271069.2:c.144+17109C>T	NP_001257998.1:n.144+17109C>T
NM_197957.4:c.171+17109C>T	NP_932061.1:n.171+17109C>T