Canonical Allele Identifier: CA7232788

Gene: MAX

Linked Data

• dbSNP Id: rs145787299
• ExAC: 14:65543251 C / G
• gnomAD v2: 14-65543251-C-G
• gnomAD v4: 14-65076533-C-G
• MyVariant Identifiers: chr14:g.65543251C>G (hg19) ; chr14:g.65076533C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076533C>G , CM000676.2:g.65076533C>G	GRCh38
NC_000014.8:g.65543251C>G , CM000676.1:g.65543251C>G	GRCh37
NC_000014.7:g.64613004C>G	NCBI36
NG_029830.1:g.30977G>C , LRG_530:g.30977G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.207G>C	ENSP00000452206.2:p.Ser69=
ENST00000556979.6:c.*879G>C	ENSP00000452378.1:n.*879G>C
ENST00000358664.9:c.426G>C MANE Select	ENSP00000351490.4:p.Ser142=
ENST00000651648.1:c.145-6164G>C	ENSP00000498863.1:n.145-6164G>C
ENST00000284165.10:c.*1270G>C	ENSP00000284165.6:n.*1270G>C
ENST00000341653.6:c.171+17175G>C	ENSP00000342482.2:n.171+17175G>C
ENST00000358402.8:c.399G>C	ENSP00000351175.4:p.Ser133=
ENST00000358664.8:c.426G>C	ENSP00000351490.4:p.Ser142=
ENST00000394606.6:c.*199G>C	ENSP00000378104.2:n.*199G>C
ENST00000553928.5:c.*215G>C	ENSP00000451907.1:n.*215G>C
ENST00000555419.5:c.318G>C	ENSP00000452405.1:p.Ser106=
ENST00000555932.5:c.167G>C	ENSP00000450763.1:p.Arg56Pro
ENST00000557277.5:c.237G>C	ENSP00000450955.1:p.Ser79=
ENST00000618858.4:c.*215G>C	ENSP00000480127.1:n.*215G>C
NM_001271069.1:c.144+17175G>C	NP_001257998.1:n.144+17175G>C
NM_002382.4:c.426G>C	NP_002373.3:p.Ser142=
NM_145112.2:c.399G>C	NP_660087.1:p.Ser133=
NM_145113.2:c.*215G>C	NP_660088.1:n.*215G>C
NM_197957.3:c.171+17175G>C	NP_932061.1:n.171+17175G>C
NR_073137.1:n.550G>C
XR_429315.2:n.713G>C
NM_001320415.1:c.237G>C	NP_001307344.1:p.Ser79=
XM_017021312.2:c.237G>C	XP_016876801.1:p.Ser79=
XM_017021313.1:c.237G>C	XP_016876802.1:p.Ser79=
XR_001750326.2:n.771G>C
XR_001750327.2:n.690G>C
XR_002957553.1:n.1204G>C
XR_943450.3:n.794G>C
XR_943451.3:n.810G>C
XR_943452.3:n.755G>C
NM_001320415.2:c.237G>C	NP_001307344.1:p.Ser79=
NM_002382.5:c.426G>C MANE Select	NP_002373.3:p.Ser142=
NM_145112.3:c.399G>C	NP_660087.1:p.Ser133=
NM_145113.3:c.*215G>C	NP_660088.1:n.*215G>C
NM_001271069.2:c.144+17175G>C	NP_001257998.1:n.144+17175G>C
NM_197957.4:c.171+17175G>C	NP_932061.1:n.171+17175G>C