Canonical Allele Identifier: CA390031276

Gene: MAX

Linked Data

• ClinVar Variation Id: 3222157
• ClinVar RCV Id: RCV004513575
• dbSNP Id: rs1441783757
• gnomAD v2: 14-65543231-G-A
• gnomAD v4: 14-65076513-G-A
• MyVariant Identifiers: chr14:g.65543231G>A (hg19) ; chr14:g.65076513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076513G>A , CM000676.2:g.65076513G>A	GRCh38
NC_000014.8:g.65543231G>A , CM000676.1:g.65543231G>A	GRCh37
NC_000014.7:g.64612984G>A	NCBI36
NG_029830.1:g.30997C>T , LRG_530:g.30997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.227C>T	ENSP00000452206.2:p.Pro76Leu
ENST00000556979.6:c.*899C>T	ENSP00000452378.1:n.*899C>T
ENST00000358664.9:c.446C>T MANE Select	ENSP00000351490.4:p.Pro149Leu
ENST00000651648.1:c.145-6144C>T	ENSP00000498863.1:n.145-6144C>T
ENST00000284165.10:c.*1290C>T	ENSP00000284165.6:n.*1290C>T
ENST00000341653.6:c.171+17195C>T	ENSP00000342482.2:n.171+17195C>T
ENST00000358402.8:c.419C>T	ENSP00000351175.4:p.Pro140Leu
ENST00000358664.8:c.446C>T	ENSP00000351490.4:p.Pro149Leu
ENST00000394606.6:c.*219C>T	ENSP00000378104.2:n.*219C>T
ENST00000553928.5:c.*235C>T	ENSP00000451907.1:n.*235C>T
ENST00000555419.5:c.338C>T	ENSP00000452405.1:p.Pro113Leu
ENST00000555932.5:c.187C>T	ENSP00000450763.1:p.Pro63Ser
ENST00000557277.5:c.257C>T	ENSP00000450955.1:p.Pro86Leu
ENST00000618858.4:c.*235C>T	ENSP00000480127.1:n.*235C>T
NM_001271069.1:c.144+17195C>T	NP_001257998.1:n.144+17195C>T
NM_002382.4:c.446C>T	NP_002373.3:p.Pro149Leu
NM_145112.2:c.419C>T	NP_660087.1:p.Pro140Leu
NM_145113.2:c.*235C>T	NP_660088.1:n.*235C>T
NM_197957.3:c.171+17195C>T	NP_932061.1:n.171+17195C>T
NR_073137.1:n.570C>T
XR_429315.2:n.733C>T
NM_001320415.1:c.257C>T	NP_001307344.1:p.Pro86Leu
XM_017021312.2:c.257C>T	XP_016876801.1:p.Pro86Leu
XM_017021313.1:c.257C>T	XP_016876802.1:p.Pro86Leu
XR_001750326.2:n.791C>T
XR_001750327.2:n.710C>T
XR_002957553.1:n.1224C>T
XR_943450.3:n.814C>T
XR_943451.3:n.830C>T
XR_943452.3:n.775C>T
NM_001320415.2:c.257C>T	NP_001307344.1:p.Pro86Leu
NM_002382.5:c.446C>T MANE Select	NP_002373.3:p.Pro149Leu
NM_145112.3:c.419C>T	NP_660087.1:p.Pro140Leu
NM_145113.3:c.*235C>T	NP_660088.1:n.*235C>T
NM_001271069.2:c.144+17195C>T	NP_001257998.1:n.144+17195C>T
NM_197957.4:c.171+17195C>T	NP_932061.1:n.171+17195C>T