Canonical Allele Identifier: CA2816478432

Gene: ADA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651975C>T , CM000682.2:g.44651975C>T	GRCh38
NC_000020.10:g.43280616C>T , CM000682.1:g.43280616C>T	GRCh37
NC_000020.9:g.42714030C>T	NCBI36
NG_007385.1:g.4761G>A , LRG_16:g.4761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-194G>A	ENSP00000512234.1:n.-194G>A
ENST00000696039.1:n.248G>A
ENST00000696062.1:c.96+125G>A	ENSP00000512365.1:n.96+125G>A
ENST00000696064.1:c.-191G>A	ENSP00000512367.1:n.-191G>A
ENST00000535573.1:n.259G>A
ENST00000536076.1:n.140G>A
XM_011528479.1:c.-330G>A	XP_011526781.1:n.-330G>A