Canonical Allele Identifier: CA315457349

Gene: ADA

Linked Data

• dbSNP Id: rs370200296
• gnomAD v3: 20-44651894-G-C
• gnomAD v4: 20-44651894-G-C
• MyVariant Identifiers: chr20:g.43280535G>C (hg19) ; chr20:g.44651894G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651894G>C , CM000682.2:g.44651894G>C	GRCh38
NC_000020.10:g.43280535G>C , CM000682.1:g.43280535G>C	GRCh37
NC_000020.9:g.42713949G>C	NCBI36
NG_007385.1:g.4842C>G , LRG_16:g.4842C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+8C>G	ENSP00000512234.1:n.-121+8C>G
ENST00000696039.1:n.321+8C>G
ENST00000696062.1:c.96+206C>G	ENSP00000512365.1:n.96+206C>G
ENST00000696064.1:c.-118+8C>G	ENSP00000512367.1:n.-118+8C>G
ENST00000696065.1:c.-121+8C>G	ENSP00000512368.1:n.-121+8C>G
ENST00000535573.1:n.332+8C>G
ENST00000536076.1:n.213+8C>G
XM_011528479.1:c.-257+8C>G	XP_011526781.1:n.-257+8C>G