Canonical Allele Identifier: CA196421

Gene: MAX

Linked Data

• ClinVar Variation Id: 186993
• ClinVar RCV Id: RCV000022654 ; RCV000166666 ; RCV001850351
• dbSNP Id: rs786203385
• MyVariant Identifiers: chr14:g.65544630C>T (hg19) ; chr14:g.65077912C>T (hg38)
• PubMed: PMID:21685915

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077912C>T , CM000676.2:g.65077912C>T	GRCh38
NC_000014.8:g.65544630C>T , CM000676.1:g.65544630C>T	GRCh37
NC_000014.7:g.64614383C>T	NCBI36
NG_029830.1:g.29598G>A , LRG_530:g.29598G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.76+1G>A	ENSP00000452206.2:n.76+1G>A
ENST00000556979.6:c.295+1G>A	ENSP00000452378.1:n.295+1G>A
ENST00000358664.9:c.295+1G>A MANE Select	ENSP00000351490.4:n.295+1G>A
ENST00000651648.1:c.145-7543G>A	ENSP00000498863.1:n.145-7543G>A
ENST00000284165.10:c.296G>A	ENSP00000284165.6:p.Gly99Asp
ENST00000341653.6:c.171+15796G>A	ENSP00000342482.2:n.171+15796G>A
ENST00000358402.8:c.268+1G>A	ENSP00000351175.4:n.268+1G>A
ENST00000358664.8:c.295+1G>A	ENSP00000351490.4:n.295+1G>A
ENST00000394606.6:c.295+1G>A	ENSP00000378104.2:n.295+1G>A
ENST00000553928.5:c.295+1G>A	ENSP00000451907.1:n.295+1G>A
ENST00000553951.1:n.373G>A
ENST00000555419.5:c.187+1G>A	ENSP00000452405.1:n.187+1G>A
ENST00000555667.5:c.268+1G>A	ENSP00000452286.1:n.268+1G>A
ENST00000555932.5:c.37-1249G>A	ENSP00000450763.1:n.37-1249G>A
ENST00000556443.5:c.269G>A	ENSP00000450818.1:p.Gly90Asp
ENST00000556892.5:c.76+1G>A	ENSP00000452206.1:n.76+1G>A
ENST00000556979.5:c.295+1G>A	ENSP00000452378.1:n.295+1G>A
ENST00000557277.5:c.21+1G>A	ENSP00000450955.1:n.21+1G>A
ENST00000557746.5:c.268+1G>A	ENSP00000452197.1:n.268+1G>A
ENST00000618858.4:c.295+1G>A	ENSP00000480127.1:n.295+1G>A
NM_001271069.1:c.144+15796G>A	NP_001257998.1:n.144+15796G>A
NM_002382.4:c.295+1G>A	NP_002373.3:n.295+1G>A
NM_145112.2:c.268+1G>A	NP_660087.1:n.268+1G>A
NM_145113.2:c.295+1G>A	NP_660088.1:n.295+1G>A
NM_197957.3:c.171+15796G>A	NP_932061.1:n.171+15796G>A
NR_073137.1:n.419+1G>A
XM_011536773.1:c.295+1G>A	XP_011535075.1:n.295+1G>A
XR_429315.2:n.497+1G>A
XR_943450.1:n.497+1G>A
XR_943451.1:n.497+1G>A
XR_943452.1:n.459+1G>A
NM_001320415.1:c.21+1G>A	NP_001307344.1:n.21+1G>A
XM_011536773.3:c.295+1G>A	XP_011535075.1:n.295+1G>A
XM_017021312.2:c.21+1G>A	XP_016876801.1:n.21+1G>A
XM_017021313.1:c.21+1G>A	XP_016876802.1:n.21+1G>A
XR_001750326.2:n.458+1G>A
XR_001750327.2:n.458+1G>A
XR_002957553.1:n.489G>A
XR_943450.3:n.497+1G>A
XR_943451.3:n.497+1G>A
XR_943452.3:n.458+1G>A
NM_001320415.2:c.21+1G>A	NP_001307344.1:n.21+1G>A
NM_002382.5:c.295+1G>A MANE Select	NP_002373.3:n.295+1G>A
NM_145112.3:c.268+1G>A	NP_660087.1:n.268+1G>A
NM_145113.3:c.295+1G>A	NP_660088.1:n.295+1G>A
NM_001271069.2:c.144+15796G>A	NP_001257998.1:n.144+15796G>A
NM_197957.4:c.171+15796G>A	NP_932061.1:n.171+15796G>A