Canonical Allele Identifier: CA390031816

Gene: MAX

Linked Data

• ClinVar Variation Id: 532532
• ClinVar RCV Id: RCV000639367
• dbSNP Id: rs1555340215
• MyVariant Identifiers: chr14:g.65543326G>A (hg19) ; chr14:g.65076608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076608G>A , CM000676.2:g.65076608G>A	GRCh38
NC_000014.8:g.65543326G>A , CM000676.1:g.65543326G>A	GRCh37
NC_000014.7:g.64613079G>A	NCBI36
NG_029830.1:g.30902C>T , LRG_530:g.30902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.132C>T	ENSP00000452206.2:p.Ser44=
ENST00000556979.6:c.*804C>T	ENSP00000452378.1:n.*804C>T
ENST00000358664.9:c.351C>T MANE Select	ENSP00000351490.4:p.Ser117=
ENST00000651648.1:c.145-6239C>T	ENSP00000498863.1:n.145-6239C>T
ENST00000284165.10:c.*1195C>T	ENSP00000284165.6:n.*1195C>T
ENST00000341653.6:c.171+17100C>T	ENSP00000342482.2:n.171+17100C>T
ENST00000358402.8:c.324C>T	ENSP00000351175.4:p.Ser108=
ENST00000358664.8:c.351C>T	ENSP00000351490.4:p.Ser117=
ENST00000394606.6:c.*124C>T	ENSP00000378104.2:n.*124C>T
ENST00000553928.5:c.*140C>T	ENSP00000451907.1:n.*140C>T
ENST00000555419.5:c.243C>T	ENSP00000452405.1:p.Ser81=
ENST00000555932.5:c.92C>T	ENSP00000450763.1:p.Pro31Leu
ENST00000557277.5:c.162C>T	ENSP00000450955.1:p.Ser54=
ENST00000618858.4:c.*140C>T	ENSP00000480127.1:n.*140C>T
NM_001271069.1:c.144+17100C>T	NP_001257998.1:n.144+17100C>T
NM_002382.4:c.351C>T	NP_002373.3:p.Ser117=
NM_145112.2:c.324C>T	NP_660087.1:p.Ser108=
NM_145113.2:c.*140C>T	NP_660088.1:n.*140C>T
NM_197957.3:c.171+17100C>T	NP_932061.1:n.171+17100C>T
NR_073137.1:n.475C>T
XR_429315.2:n.638C>T
XR_943450.1:n.719C>T
XR_943451.1:n.735C>T
XR_943452.1:n.681C>T
NM_001320415.1:c.162C>T	NP_001307344.1:p.Ser54=
XM_017021312.2:c.162C>T	XP_016876801.1:p.Ser54=
XM_017021313.1:c.162C>T	XP_016876802.1:p.Ser54=
XR_001750326.2:n.696C>T
XR_001750327.2:n.615C>T
XR_002957553.1:n.1129C>T
XR_943450.3:n.719C>T
XR_943451.3:n.735C>T
XR_943452.3:n.680C>T
NM_001320415.2:c.162C>T	NP_001307344.1:p.Ser54=
NM_002382.5:c.351C>T MANE Select	NP_002373.3:p.Ser117=
NM_145112.3:c.324C>T	NP_660087.1:p.Ser108=
NM_145113.3:c.*140C>T	NP_660088.1:n.*140C>T
NM_001271069.2:c.144+17100C>T	NP_001257998.1:n.144+17100C>T
NM_197957.4:c.171+17100C>T	NP_932061.1:n.171+17100C>T