Canonical Allele Identifier: CA390031170

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543216T>G (hg19) ; chr14:g.65076498T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076498T>G , CM000676.2:g.65076498T>G	GRCh38
NC_000014.8:g.65543216T>G , CM000676.1:g.65543216T>G	GRCh37
NC_000014.7:g.64612969T>G	NCBI36
NG_029830.1:g.31012A>C , LRG_530:g.31012A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.242A>C	ENSP00000452206.2:p.Lys81Thr
ENST00000556979.6:c.*914A>C	ENSP00000452378.1:n.*914A>C
ENST00000358664.9:c.461A>C MANE Select	ENSP00000351490.4:p.Lys154Thr
ENST00000651648.1:c.145-6129A>C	ENSP00000498863.1:n.145-6129A>C
ENST00000284165.10:c.*1305A>C	ENSP00000284165.6:n.*1305A>C
ENST00000341653.6:c.171+17210A>C	ENSP00000342482.2:n.171+17210A>C
ENST00000358402.8:c.434A>C	ENSP00000351175.4:p.Lys145Thr
ENST00000358664.8:c.461A>C	ENSP00000351490.4:p.Lys154Thr
ENST00000394606.6:c.*234A>C	ENSP00000378104.2:n.*234A>C
ENST00000553928.5:c.*250A>C	ENSP00000451907.1:n.*250A>C
ENST00000555419.5:c.353A>C	ENSP00000452405.1:p.Lys118Thr
ENST00000555932.5:c.202A>C	ENSP00000450763.1:p.Ser68Arg
ENST00000557277.5:c.272A>C	ENSP00000450955.1:p.Lys91Thr
ENST00000618858.4:c.*250A>C	ENSP00000480127.1:n.*250A>C
NM_001271069.1:c.144+17210A>C	NP_001257998.1:n.144+17210A>C
NM_002382.4:c.461A>C	NP_002373.3:p.Lys154Thr
NM_145112.2:c.434A>C	NP_660087.1:p.Lys145Thr
NM_145113.2:c.*250A>C	NP_660088.1:n.*250A>C
NM_197957.3:c.171+17210A>C	NP_932061.1:n.171+17210A>C
NR_073137.1:n.585A>C
XR_429315.2:n.748A>C
NM_001320415.1:c.272A>C	NP_001307344.1:p.Lys91Thr
XM_017021312.2:c.272A>C	XP_016876801.1:p.Lys91Thr
XM_017021313.1:c.272A>C	XP_016876802.1:p.Lys91Thr
XR_001750326.2:n.806A>C
XR_001750327.2:n.725A>C
XR_002957553.1:n.1239A>C
XR_943450.3:n.829A>C
XR_943451.3:n.845A>C
XR_943452.3:n.790A>C
NM_001320415.2:c.272A>C	NP_001307344.1:p.Lys91Thr
NM_002382.5:c.461A>C MANE Select	NP_002373.3:p.Lys154Thr
NM_145112.3:c.434A>C	NP_660087.1:p.Lys145Thr
NM_145113.3:c.*250A>C	NP_660088.1:n.*250A>C
NM_001271069.2:c.144+17210A>C	NP_001257998.1:n.144+17210A>C
NM_197957.4:c.171+17210A>C	NP_932061.1:n.171+17210A>C