Canonical Allele Identifier: CA707784520

Gene: MAX

Linked Data

• dbSNP Id: rs1255694407
• gnomAD v3: 14-65075930-A-G
• gnomAD v4: 14-65075930-A-G
• MyVariant Identifiers: chr14:g.65542648A>G (hg19) ; chr14:g.65075930A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075930A>G , CM000676.2:g.65075930A>G	GRCh38
NC_000014.8:g.65542648A>G , CM000676.1:g.65542648A>G	GRCh37
NC_000014.7:g.64612401A>G	NCBI36
NG_029830.1:g.31580T>C , LRG_530:g.31580T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.*546T>C	ENSP00000452206.2:n.*546T>C
ENST00000556979.6:c.*1482T>C	ENSP00000452378.1:n.*1482T>C
ENST00000358664.9:c.*546T>C MANE Select	ENSP00000351490.4:n.*546T>C
ENST00000651648.1:c.145-5561T>C	ENSP00000498863.1:n.145-5561T>C
ENST00000284165.10:c.*1873T>C	ENSP00000284165.6:n.*1873T>C
ENST00000341653.6:c.171+17778T>C	ENSP00000342482.2:n.171+17778T>C
ENST00000358402.8:c.*546T>C	ENSP00000351175.4:n.*546T>C
ENST00000358664.8:c.*546T>C	ENSP00000351490.4:n.*546T>C
ENST00000394606.6:c.*802T>C	ENSP00000378104.2:n.*802T>C
ENST00000555932.5:c.*521T>C	ENSP00000450763.1:n.*521T>C
ENST00000618858.4:c.*818T>C	ENSP00000480127.1:n.*818T>C
NM_001271069.1:c.144+17778T>C	NP_001257998.1:n.144+17778T>C
NM_002382.4:c.*546T>C	NP_002373.3:n.*546T>C
NM_145112.2:c.*546T>C	NP_660087.1:n.*546T>C
NM_145113.2:c.*818T>C	NP_660088.1:n.*818T>C
NM_197957.3:c.171+17778T>C	NP_932061.1:n.171+17778T>C
NR_073137.1:n.1153T>C
XR_429315.2:n.1316T>C
NM_001320415.1:c.*546T>C	NP_001307344.1:n.*546T>C
XM_017021312.2:c.*546T>C	XP_016876801.1:n.*546T>C
XM_017021313.1:c.*546T>C	XP_016876802.1:n.*546T>C
XR_001750326.2:n.1374T>C
XR_001750327.2:n.1293T>C
XR_002957553.1:n.1807T>C
XR_943450.3:n.1397T>C
XR_943451.3:n.1413T>C
XR_943452.3:n.1358T>C
NM_001320415.2:c.*546T>C	NP_001307344.1:n.*546T>C
NM_002382.5:c.*546T>C MANE Select	NP_002373.3:n.*546T>C
NM_145112.3:c.*546T>C	NP_660087.1:n.*546T>C
NM_145113.3:c.*818T>C	NP_660088.1:n.*818T>C
NM_001271069.2:c.144+17778T>C	NP_001257998.1:n.144+17778T>C
NM_197957.4:c.171+17778T>C	NP_932061.1:n.171+17778T>C