Canonical Allele Identifier: CA390035509

Gene: MAX

Linked Data

• dbSNP Id: rs2139753041
• MyVariant Identifiers: chr14:g.65544659C>G (hg19) ; chr14:g.65077941C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077941C>G , CM000676.2:g.65077941C>G	GRCh38
NC_000014.8:g.65544659C>G , CM000676.1:g.65544659C>G	GRCh37
NC_000014.7:g.64614412C>G	NCBI36
NG_029830.1:g.29569G>C , LRG_530:g.29569G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.48G>C	ENSP00000452206.2:p.Lys16Asn
ENST00000556979.6:c.267G>C	ENSP00000452378.1:p.Lys89Asn
ENST00000358664.9:c.267G>C MANE Select	ENSP00000351490.4:p.Lys89Asn
ENST00000651648.1:c.145-7572G>C	ENSP00000498863.1:n.145-7572G>C
ENST00000284165.10:c.267G>C	ENSP00000284165.6:p.Lys89Asn
ENST00000341653.6:c.171+15767G>C	ENSP00000342482.2:n.171+15767G>C
ENST00000358402.8:c.240G>C	ENSP00000351175.4:p.Lys80Asn
ENST00000358664.8:c.267G>C	ENSP00000351490.4:p.Lys89Asn
ENST00000394606.6:c.267G>C	ENSP00000378104.2:p.Lys89Asn
ENST00000553928.5:c.267G>C	ENSP00000451907.1:p.Lys89Asn
ENST00000553951.1:n.344G>C
ENST00000555419.5:c.159G>C	ENSP00000452405.1:p.Lys53Asn
ENST00000555667.5:c.240G>C	ENSP00000452286.1:p.Lys80Asn
ENST00000555932.5:c.37-1278G>C	ENSP00000450763.1:n.37-1278G>C
ENST00000556443.5:c.240G>C	ENSP00000450818.1:p.Lys80Asn
ENST00000556892.5:c.48G>C	ENSP00000452206.1:p.Lys16Asn
ENST00000556979.5:c.267G>C	ENSP00000452378.1:p.Lys89Asn
ENST00000557277.5:c.-8G>C	ENSP00000450955.1:n.-8G>C
ENST00000557746.5:c.240G>C	ENSP00000452197.1:p.Lys80Asn
ENST00000618858.4:c.267G>C	ENSP00000480127.1:p.Lys89Asn
NM_001271069.1:c.144+15767G>C	NP_001257998.1:n.144+15767G>C
NM_002382.4:c.267G>C	NP_002373.3:p.Lys89Asn
NM_145112.2:c.240G>C	NP_660087.1:p.Lys80Asn
NM_145113.2:c.267G>C	NP_660088.1:p.Lys89Asn
NM_197957.3:c.171+15767G>C	NP_932061.1:n.171+15767G>C
NR_073137.1:n.391G>C
XM_011536773.1:c.267G>C	XP_011535075.1:p.Lys89Asn
XR_429315.2:n.469G>C
XR_943450.1:n.469G>C
XR_943451.1:n.469G>C
XR_943452.1:n.431G>C
NM_001320415.1:c.-8G>C	NP_001307344.1:n.-8G>C
XM_011536773.3:c.267G>C	XP_011535075.1:p.Lys89Asn
XM_017021312.2:c.-8G>C	XP_016876801.1:n.-8G>C
XM_017021313.1:c.-8G>C	XP_016876802.1:n.-8G>C
XR_001750326.2:n.430G>C
XR_001750327.2:n.430G>C
XR_002957553.1:n.460G>C
XR_943450.3:n.469G>C
XR_943451.3:n.469G>C
XR_943452.3:n.430G>C
NM_001320415.2:c.-8G>C	NP_001307344.1:n.-8G>C
NM_002382.5:c.267G>C MANE Select	NP_002373.3:p.Lys89Asn
NM_145112.3:c.240G>C	NP_660087.1:p.Lys80Asn
NM_145113.3:c.267G>C	NP_660088.1:p.Lys89Asn
NM_001271069.2:c.144+15767G>C	NP_001257998.1:n.144+15767G>C
NM_197957.4:c.171+15767G>C	NP_932061.1:n.171+15767G>C