Canonical Allele Identifier: CA390031662

Gene: MAX

Linked Data

• dbSNP Id: rs2139740486
• MyVariant Identifiers: chr14:g.65543291C>T (hg19) ; chr14:g.65076573C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076573C>T , CM000676.2:g.65076573C>T	GRCh38
NC_000014.8:g.65543291C>T , CM000676.1:g.65543291C>T	GRCh37
NC_000014.7:g.64613044C>T	NCBI36
NG_029830.1:g.30937G>A , LRG_530:g.30937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.167G>A	ENSP00000452206.2:p.Ser56Asn
ENST00000556979.6:c.*839G>A	ENSP00000452378.1:n.*839G>A
ENST00000358664.9:c.386G>A MANE Select	ENSP00000351490.4:p.Ser129Asn
ENST00000651648.1:c.145-6204G>A	ENSP00000498863.1:n.145-6204G>A
ENST00000284165.10:c.*1230G>A	ENSP00000284165.6:n.*1230G>A
ENST00000341653.6:c.171+17135G>A	ENSP00000342482.2:n.171+17135G>A
ENST00000358402.8:c.359G>A	ENSP00000351175.4:p.Ser120Asn
ENST00000358664.8:c.386G>A	ENSP00000351490.4:p.Ser129Asn
ENST00000394606.6:c.*159G>A	ENSP00000378104.2:n.*159G>A
ENST00000553928.5:c.*175G>A	ENSP00000451907.1:n.*175G>A
ENST00000555419.5:c.278G>A	ENSP00000452405.1:p.Ser93Asn
ENST00000555932.5:c.127G>A	ENSP00000450763.1:p.Ala43Thr
ENST00000557277.5:c.197G>A	ENSP00000450955.1:p.Ser66Asn
ENST00000618858.4:c.*175G>A	ENSP00000480127.1:n.*175G>A
NM_001271069.1:c.144+17135G>A	NP_001257998.1:n.144+17135G>A
NM_002382.4:c.386G>A	NP_002373.3:p.Ser129Asn
NM_145112.2:c.359G>A	NP_660087.1:p.Ser120Asn
NM_145113.2:c.*175G>A	NP_660088.1:n.*175G>A
NM_197957.3:c.171+17135G>A	NP_932061.1:n.171+17135G>A
NR_073137.1:n.510G>A
XR_429315.2:n.673G>A
NM_001320415.1:c.197G>A	NP_001307344.1:p.Ser66Asn
XM_017021312.2:c.197G>A	XP_016876801.1:p.Ser66Asn
XM_017021313.1:c.197G>A	XP_016876802.1:p.Ser66Asn
XR_001750326.2:n.731G>A
XR_001750327.2:n.650G>A
XR_002957553.1:n.1164G>A
XR_943450.3:n.754G>A
XR_943451.3:n.770G>A
XR_943452.3:n.715G>A
NM_001320415.2:c.197G>A	NP_001307344.1:p.Ser66Asn
NM_002382.5:c.386G>A MANE Select	NP_002373.3:p.Ser129Asn
NM_145112.3:c.359G>A	NP_660087.1:p.Ser120Asn
NM_145113.3:c.*175G>A	NP_660088.1:n.*175G>A
NM_001271069.2:c.144+17135G>A	NP_001257998.1:n.144+17135G>A
NM_197957.4:c.171+17135G>A	NP_932061.1:n.171+17135G>A