Canonical Allele Identifier: CA390033367

Gene: MAX

Linked Data

• gnomAD v4: 14-65077814-A-C
• MyVariant Identifiers: chr14:g.65544532A>C (hg19) ; chr14:g.65077814A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077814A>C , CM000676.2:g.65077814A>C	GRCh38
NC_000014.8:g.65544532A>C , CM000676.1:g.65544532A>C	GRCh37
NC_000014.7:g.64614285A>C	NCBI36
NG_029830.1:g.29696T>G , LRG_530:g.29696T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.76+99T>G	ENSP00000452206.2:n.76+99T>G
ENST00000556979.6:c.295+99T>G	ENSP00000452378.1:n.295+99T>G
ENST00000358664.9:c.295+99T>G MANE Select	ENSP00000351490.4:n.295+99T>G
ENST00000651648.1:c.145-7445T>G	ENSP00000498863.1:n.145-7445T>G
ENST00000284165.10:c.394T>G	ENSP00000284165.6:p.Cys132Gly
ENST00000341653.6:c.171+15894T>G	ENSP00000342482.2:n.171+15894T>G
ENST00000358402.8:c.268+99T>G	ENSP00000351175.4:n.268+99T>G
ENST00000358664.8:c.295+99T>G	ENSP00000351490.4:n.295+99T>G
ENST00000394606.6:c.295+99T>G	ENSP00000378104.2:n.295+99T>G
ENST00000553928.5:c.295+99T>G	ENSP00000451907.1:n.295+99T>G
ENST00000553951.1:n.471T>G
ENST00000555419.5:c.187+99T>G	ENSP00000452405.1:n.187+99T>G
ENST00000555667.5:c.268+99T>G	ENSP00000452286.1:n.268+99T>G
ENST00000555932.5:c.37-1151T>G	ENSP00000450763.1:n.37-1151T>G
ENST00000556443.5:c.367T>G	ENSP00000450818.1:p.Cys123Gly
ENST00000556892.5:c.76+99T>G	ENSP00000452206.1:n.76+99T>G
ENST00000556979.5:c.295+99T>G	ENSP00000452378.1:n.295+99T>G
ENST00000557277.5:c.21+99T>G	ENSP00000450955.1:n.21+99T>G
ENST00000557746.5:c.268+99T>G	ENSP00000452197.1:n.268+99T>G
ENST00000618858.4:c.295+99T>G	ENSP00000480127.1:n.295+99T>G
NM_001271069.1:c.144+15894T>G	NP_001257998.1:n.144+15894T>G
NM_002382.4:c.295+99T>G	NP_002373.3:n.295+99T>G
NM_145112.2:c.268+99T>G	NP_660087.1:n.268+99T>G
NM_145113.2:c.295+99T>G	NP_660088.1:n.295+99T>G
NM_197957.3:c.171+15894T>G	NP_932061.1:n.171+15894T>G
NR_073137.1:n.419+99T>G
XM_011536773.1:c.295+99T>G	XP_011535075.1:n.295+99T>G
XR_429315.2:n.497+99T>G
XR_943450.1:n.497+99T>G
XR_943451.1:n.497+99T>G
XR_943452.1:n.459+99T>G
NM_001320415.1:c.21+99T>G	NP_001307344.1:n.21+99T>G
XM_011536773.3:c.295+99T>G	XP_011535075.1:n.295+99T>G
XM_017021312.2:c.21+99T>G	XP_016876801.1:n.21+99T>G
XM_017021313.1:c.21+99T>G	XP_016876802.1:n.21+99T>G
XR_001750326.2:n.458+99T>G
XR_001750327.2:n.458+99T>G
XR_002957553.1:n.587T>G
XR_943450.3:n.497+99T>G
XR_943451.3:n.497+99T>G
XR_943452.3:n.458+99T>G
NM_001320415.2:c.21+99T>G	NP_001307344.1:n.21+99T>G
NM_002382.5:c.295+99T>G MANE Select	NP_002373.3:n.295+99T>G
NM_145112.3:c.268+99T>G	NP_660087.1:n.268+99T>G
NM_145113.3:c.295+99T>G	NP_660088.1:n.295+99T>G
NM_001271069.2:c.144+15894T>G	NP_001257998.1:n.144+15894T>G
NM_197957.4:c.171+15894T>G	NP_932061.1:n.171+15894T>G