Canonical Allele Identifier: CA390031156

Gene: MAX

Linked Data

• dbSNP Id: rs2139739256
• gnomAD v4: 14-65076496-G-C
• MyVariant Identifiers: chr14:g.65543214G>C (hg19) ; chr14:g.65076496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076496G>C , CM000676.2:g.65076496G>C	GRCh38
NC_000014.8:g.65543214G>C , CM000676.1:g.65543214G>C	GRCh37
NC_000014.7:g.64612967G>C	NCBI36
NG_029830.1:g.31014C>G , LRG_530:g.31014C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.244C>G	ENSP00000452206.2:p.Leu82Val
ENST00000556979.6:c.*916C>G	ENSP00000452378.1:n.*916C>G
ENST00000358664.9:c.463C>G MANE Select	ENSP00000351490.4:p.Leu155Val
ENST00000651648.1:c.145-6127C>G	ENSP00000498863.1:n.145-6127C>G
ENST00000284165.10:c.*1307C>G	ENSP00000284165.6:n.*1307C>G
ENST00000341653.6:c.171+17212C>G	ENSP00000342482.2:n.171+17212C>G
ENST00000358402.8:c.436C>G	ENSP00000351175.4:p.Leu146Val
ENST00000358664.8:c.463C>G	ENSP00000351490.4:p.Leu155Val
ENST00000394606.6:c.*236C>G	ENSP00000378104.2:n.*236C>G
ENST00000553928.5:c.*252C>G	ENSP00000451907.1:n.*252C>G
ENST00000555419.5:c.355C>G	ENSP00000452405.1:p.Leu119Val
ENST00000555932.5:c.204C>G	ENSP00000450763.1:p.Ser68Arg
ENST00000557277.5:c.274C>G	ENSP00000450955.1:p.Leu92Val
ENST00000618858.4:c.*252C>G	ENSP00000480127.1:n.*252C>G
NM_001271069.1:c.144+17212C>G	NP_001257998.1:n.144+17212C>G
NM_002382.4:c.463C>G	NP_002373.3:p.Leu155Val
NM_145112.2:c.436C>G	NP_660087.1:p.Leu146Val
NM_145113.2:c.*252C>G	NP_660088.1:n.*252C>G
NM_197957.3:c.171+17212C>G	NP_932061.1:n.171+17212C>G
NR_073137.1:n.587C>G
XR_429315.2:n.750C>G
NM_001320415.1:c.274C>G	NP_001307344.1:p.Leu92Val
XM_017021312.2:c.274C>G	XP_016876801.1:p.Leu92Val
XM_017021313.1:c.274C>G	XP_016876802.1:p.Leu92Val
XR_001750326.2:n.808C>G
XR_001750327.2:n.727C>G
XR_002957553.1:n.1241C>G
XR_943450.3:n.831C>G
XR_943451.3:n.847C>G
XR_943452.3:n.792C>G
NM_001320415.2:c.274C>G	NP_001307344.1:p.Leu92Val
NM_002382.5:c.463C>G MANE Select	NP_002373.3:p.Leu155Val
NM_145112.3:c.436C>G	NP_660087.1:p.Leu146Val
NM_145113.3:c.*252C>G	NP_660088.1:n.*252C>G
NM_001271069.2:c.144+17212C>G	NP_001257998.1:n.144+17212C>G
NM_197957.4:c.171+17212C>G	NP_932061.1:n.171+17212C>G