Canonical Allele Identifier: CA390031250

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543227T>G (hg19) ; chr14:g.65076509T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076509T>G , CM000676.2:g.65076509T>G	GRCh38
NC_000014.8:g.65543227T>G , CM000676.1:g.65543227T>G	GRCh37
NC_000014.7:g.64612980T>G	NCBI36
NG_029830.1:g.31001A>C , LRG_530:g.31001A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.231A>C	ENSP00000452206.2:p.Gln77His
ENST00000556979.6:c.*903A>C	ENSP00000452378.1:n.*903A>C
ENST00000358664.9:c.450A>C MANE Select	ENSP00000351490.4:p.Gln150His
ENST00000651648.1:c.145-6140A>C	ENSP00000498863.1:n.145-6140A>C
ENST00000284165.10:c.*1294A>C	ENSP00000284165.6:n.*1294A>C
ENST00000341653.6:c.171+17199A>C	ENSP00000342482.2:n.171+17199A>C
ENST00000358402.8:c.423A>C	ENSP00000351175.4:p.Gln141His
ENST00000358664.8:c.450A>C	ENSP00000351490.4:p.Gln150His
ENST00000394606.6:c.*223A>C	ENSP00000378104.2:n.*223A>C
ENST00000553928.5:c.*239A>C	ENSP00000451907.1:n.*239A>C
ENST00000555419.5:c.342A>C	ENSP00000452405.1:p.Gln114His
ENST00000555932.5:c.191A>C	ENSP00000450763.1:p.Lys64Thr
ENST00000557277.5:c.261A>C	ENSP00000450955.1:p.Gln87His
ENST00000618858.4:c.*239A>C	ENSP00000480127.1:n.*239A>C
NM_001271069.1:c.144+17199A>C	NP_001257998.1:n.144+17199A>C
NM_002382.4:c.450A>C	NP_002373.3:p.Gln150His
NM_145112.2:c.423A>C	NP_660087.1:p.Gln141His
NM_145113.2:c.*239A>C	NP_660088.1:n.*239A>C
NM_197957.3:c.171+17199A>C	NP_932061.1:n.171+17199A>C
NR_073137.1:n.574A>C
XR_429315.2:n.737A>C
NM_001320415.1:c.261A>C	NP_001307344.1:p.Gln87His
XM_017021312.2:c.261A>C	XP_016876801.1:p.Gln87His
XM_017021313.1:c.261A>C	XP_016876802.1:p.Gln87His
XR_001750326.2:n.795A>C
XR_001750327.2:n.714A>C
XR_002957553.1:n.1228A>C
XR_943450.3:n.818A>C
XR_943451.3:n.834A>C
XR_943452.3:n.779A>C
NM_001320415.2:c.261A>C	NP_001307344.1:p.Gln87His
NM_002382.5:c.450A>C MANE Select	NP_002373.3:p.Gln150His
NM_145112.3:c.423A>C	NP_660087.1:p.Gln141His
NM_145113.3:c.*239A>C	NP_660088.1:n.*239A>C
NM_001271069.2:c.144+17199A>C	NP_001257998.1:n.144+17199A>C
NM_197957.4:c.171+17199A>C	NP_932061.1:n.171+17199A>C