Canonical Allele Identifier: CA390035756

Gene: MAX

Linked Data

• ClinVar Variation Id: 820913
• ClinVar RCV Id: RCV001014836
• dbSNP Id: rs1595131061
• MyVariant Identifiers: chr14:g.65544705A>G (hg19) ; chr14:g.65077987A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077987A>G , CM000676.2:g.65077987A>G	GRCh38
NC_000014.8:g.65544705A>G , CM000676.1:g.65544705A>G	GRCh37
NC_000014.7:g.64614458A>G	NCBI36
NG_029830.1:g.29523T>C , LRG_530:g.29523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.2T>C	ENSP00000452206.2:p.Met1Thr
ENST00000556979.6:c.221T>C	ENSP00000452378.1:p.Met74Thr
ENST00000358664.9:c.221T>C MANE Select	ENSP00000351490.4:p.Met74Thr
ENST00000651648.1:c.145-7618T>C	ENSP00000498863.1:n.145-7618T>C
ENST00000284165.10:c.221T>C	ENSP00000284165.6:p.Met74Thr
ENST00000341653.6:c.171+15721T>C	ENSP00000342482.2:n.171+15721T>C
ENST00000358402.8:c.194T>C	ENSP00000351175.4:p.Met65Thr
ENST00000358664.8:c.221T>C	ENSP00000351490.4:p.Met74Thr
ENST00000394606.6:c.221T>C	ENSP00000378104.2:p.Met74Thr
ENST00000553928.5:c.221T>C	ENSP00000451907.1:p.Met74Thr
ENST00000553951.1:n.298T>C
ENST00000555419.5:c.113T>C	ENSP00000452405.1:p.Met38Thr
ENST00000555667.5:c.194T>C	ENSP00000452286.1:p.Met65Thr
ENST00000555932.5:c.37-1324T>C	ENSP00000450763.1:n.37-1324T>C
ENST00000556443.5:c.194T>C	ENSP00000450818.1:p.Met65Thr
ENST00000556892.5:c.2T>C	ENSP00000452206.1:p.Met1Thr
ENST00000556979.5:c.221T>C	ENSP00000452378.1:p.Met74Thr
ENST00000557277.5:c.-54T>C	ENSP00000450955.1:n.-54T>C
ENST00000557746.5:c.194T>C	ENSP00000452197.1:p.Met65Thr
ENST00000618858.4:c.221T>C	ENSP00000480127.1:p.Met74Thr
NM_001271069.1:c.144+15721T>C	NP_001257998.1:n.144+15721T>C
NM_002382.4:c.221T>C	NP_002373.3:p.Met74Thr
NM_145112.2:c.194T>C	NP_660087.1:p.Met65Thr
NM_145113.2:c.221T>C	NP_660088.1:p.Met74Thr
NM_197957.3:c.171+15721T>C	NP_932061.1:n.171+15721T>C
NR_073137.1:n.345T>C
XM_011536773.1:c.221T>C	XP_011535075.1:p.Met74Thr
XR_429315.2:n.423T>C
XR_943450.1:n.423T>C
XR_943451.1:n.423T>C
XR_943452.1:n.385T>C
NM_001320415.1:c.-54T>C	NP_001307344.1:n.-54T>C
XM_011536773.3:c.221T>C	XP_011535075.1:p.Met74Thr
XM_017021312.2:c.-54T>C	XP_016876801.1:n.-54T>C
XM_017021313.1:c.-54T>C	XP_016876802.1:n.-54T>C
XR_001750326.2:n.384T>C
XR_001750327.2:n.384T>C
XR_002957553.1:n.414T>C
XR_943450.3:n.423T>C
XR_943451.3:n.423T>C
XR_943452.3:n.384T>C
NM_001320415.2:c.-54T>C	NP_001307344.1:n.-54T>C
NM_002382.5:c.221T>C MANE Select	NP_002373.3:p.Met74Thr
NM_145112.3:c.194T>C	NP_660087.1:p.Met65Thr
NM_145113.3:c.221T>C	NP_660088.1:p.Met74Thr
NM_001271069.2:c.144+15721T>C	NP_001257998.1:n.144+15721T>C
NM_197957.4:c.171+15721T>C	NP_932061.1:n.171+15721T>C