Canonical Allele Identifier: CA315457296

Gene: ADA

Linked Data

• dbSNP Id: rs1045133502
• gnomAD v3: 20-44651733-G-A
• gnomAD v4: 20-44651733-G-A
• MyVariant Identifiers: chr20:g.43280374G>A (hg19) ; chr20:g.44651733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651733G>A , CM000682.2:g.44651733G>A	GRCh38
NC_000020.10:g.43280374G>A , CM000682.1:g.43280374G>A	GRCh37
NC_000020.9:g.42713788G>A	NCBI36
NG_007385.1:g.5003C>T , LRG_16:g.5003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+169C>T	ENSP00000512234.1:n.-121+169C>T
ENST00000537820.2:c.-126C>T	ENSP00000441818.1:n.-126C>T
ENST00000696039.1:n.321+169C>T
ENST00000696060.1:c.-126C>T	ENSP00000512363.1:n.-126C>T
ENST00000696061.1:c.-126C>T	ENSP00000512364.1:n.-126C>T
ENST00000696062.1:c.96+367C>T	ENSP00000512365.1:n.96+367C>T
ENST00000696064.1:c.-118+169C>T	ENSP00000512367.1:n.-118+169C>T
ENST00000696065.1:c.-121+169C>T	ENSP00000512368.1:n.-121+169C>T
ENST00000696077.1:c.-126C>T	ENSP00000512376.1:n.-126C>T
ENST00000696078.1:c.-126C>T	ENSP00000512377.1:n.-126C>T
ENST00000372874.8:c.-126C>T	ENSP00000361965.4:n.-126C>T
ENST00000535573.1:n.332+169C>T
ENST00000536076.1:n.213+169C>T
NM_000022.2:c.-126C>T , LRG_16t1:c.-126C>T	NP_000013.2:n.-126C>T
XM_011528479.1:c.-257+169C>T	XP_011526781.1:n.-257+169C>T
NM_000022.3:c.-126C>T	NP_000013.2:n.-126C>T
NM_001322050.1:c.-415C>T	NP_001308979.1:n.-415C>T
NM_001322051.1:c.-126C>T	NP_001308980.1:n.-126C>T
NR_136160.1:n.26C>T