Canonical Allele Identifier: CA390031002

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543194T>G (hg19) ; chr14:g.65076476T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076476T>G , CM000676.2:g.65076476T>G	GRCh38
NC_000014.8:g.65543194T>G , CM000676.1:g.65543194T>G	GRCh37
NC_000014.7:g.64612947T>G	NCBI36
NG_029830.1:g.31034A>C , LRG_530:g.31034A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.264A>C	ENSP00000452206.2:p.Ter88Tyr
ENST00000556979.6:c.*936A>C	ENSP00000452378.1:n.*936A>C
ENST00000358664.9:c.483A>C MANE Select	ENSP00000351490.4:p.Ter161Tyr
ENST00000651648.1:c.145-6107A>C	ENSP00000498863.1:n.145-6107A>C
ENST00000284165.10:c.*1327A>C	ENSP00000284165.6:n.*1327A>C
ENST00000341653.6:c.171+17232A>C	ENSP00000342482.2:n.171+17232A>C
ENST00000358402.8:c.456A>C	ENSP00000351175.4:p.Ter152Tyr
ENST00000358664.8:c.483A>C	ENSP00000351490.4:p.Ter161Tyr
ENST00000394606.6:c.*256A>C	ENSP00000378104.2:n.*256A>C
ENST00000553928.5:c.*272A>C	ENSP00000451907.1:n.*272A>C
ENST00000555419.5:c.375A>C	ENSP00000452405.1:p.Ter125Tyr
ENST00000555932.5:c.224A>C	ENSP00000450763.1:p.Lys75Thr
ENST00000557277.5:c.294A>C	ENSP00000450955.1:p.Ter98Tyr
ENST00000618858.4:c.*272A>C	ENSP00000480127.1:n.*272A>C
NM_001271069.1:c.144+17232A>C	NP_001257998.1:n.144+17232A>C
NM_002382.4:c.483A>C	NP_002373.3:p.Ter161Tyr
NM_145112.2:c.456A>C	NP_660087.1:p.Ter152Tyr
NM_145113.2:c.*272A>C	NP_660088.1:n.*272A>C
NM_197957.3:c.171+17232A>C	NP_932061.1:n.171+17232A>C
NR_073137.1:n.607A>C
XR_429315.2:n.770A>C
NM_001320415.1:c.294A>C	NP_001307344.1:p.Ter98Tyr
XM_017021312.2:c.294A>C	XP_016876801.1:p.Ter98Tyr
XM_017021313.1:c.294A>C	XP_016876802.1:p.Ter98Tyr
XR_001750326.2:n.828A>C
XR_001750327.2:n.747A>C
XR_002957553.1:n.1261A>C
XR_943450.3:n.851A>C
XR_943451.3:n.867A>C
XR_943452.3:n.812A>C
NM_001320415.2:c.294A>C	NP_001307344.1:p.Ter98Tyr
NM_002382.5:c.483A>C MANE Select	NP_002373.3:p.Ter161Tyr
NM_145112.3:c.456A>C	NP_660087.1:p.Ter152Tyr
NM_145113.3:c.*272A>C	NP_660088.1:n.*272A>C
NM_001271069.2:c.144+17232A>C	NP_001257998.1:n.144+17232A>C
NM_197957.4:c.171+17232A>C	NP_932061.1:n.171+17232A>C