Canonical Allele Identifier: CA614436342

Gene: MAX

Linked Data

• dbSNP Id: rs1363741627
• gnomAD v2: 14-65541544-C-T
• gnomAD v3: 14-65074826-C-T
• gnomAD v4: 14-65074826-C-T
• MyVariant Identifiers: chr14:g.65541544C>T (hg19) ; chr14:g.65074826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65074826C>T , CM000676.2:g.65074826C>T	GRCh38
NC_000014.8:g.65541544C>T , CM000676.1:g.65541544C>T	GRCh37
NC_000014.7:g.64611297C>T	NCBI36
NG_029830.1:g.32684G>A , LRG_530:g.32684G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651648.1:c.145-4457G>A	ENSP00000498863.1:n.145-4457G>A
ENST00000341653.6:c.171+18882G>A	ENSP00000342482.2:n.171+18882G>A
NM_001271069.1:c.144+18882G>A	NP_001257998.1:n.144+18882G>A
NM_197957.3:c.171+18882G>A	NP_932061.1:n.171+18882G>A
NM_001271069.2:c.144+18882G>A	NP_001257998.1:n.144+18882G>A
NM_197957.4:c.171+18882G>A	NP_932061.1:n.171+18882G>A