Canonical Allele Identifier: CA315457331

Gene: ADA

Linked Data

• dbSNP Id: rs918152065
• gnomAD v2: 20-43280451-G-C
• gnomAD v3: 20-44651810-G-C
• gnomAD v4: 20-44651810-G-C
• MyVariant Identifiers: chr20:g.43280451G>C (hg19) ; chr20:g.44651810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651810G>C , CM000682.2:g.44651810G>C	GRCh38
NC_000020.10:g.43280451G>C , CM000682.1:g.43280451G>C	GRCh37
NC_000020.9:g.42713865G>C	NCBI36
NG_007385.1:g.4926C>G , LRG_16:g.4926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+92C>G	ENSP00000512234.1:n.-121+92C>G
ENST00000696039.1:n.321+92C>G
ENST00000696062.1:c.96+290C>G	ENSP00000512365.1:n.96+290C>G
ENST00000696064.1:c.-118+92C>G	ENSP00000512367.1:n.-118+92C>G
ENST00000696065.1:c.-121+92C>G	ENSP00000512368.1:n.-121+92C>G
ENST00000535573.1:n.332+92C>G
ENST00000536076.1:n.213+92C>G
XM_011528479.1:c.-257+92C>G	XP_011526781.1:n.-257+92C>G