Canonical Allele Identifier: CA744696946

Gene: ADA

Linked Data

• dbSNP Id: rs1193614212
• gnomAD v3: 20-44651937-T-C
• gnomAD v4: 20-44651937-T-C
• MyVariant Identifiers: chr20:g.43280578T>C (hg19) ; chr20:g.44651937T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651937T>C , CM000682.2:g.44651937T>C	GRCh38
NC_000020.10:g.43280578T>C , CM000682.1:g.43280578T>C	GRCh37
NC_000020.9:g.42713992T>C	NCBI36
NG_007385.1:g.4799A>G , LRG_16:g.4799A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-156A>G	ENSP00000512234.1:n.-156A>G
ENST00000696039.1:n.286A>G
ENST00000696062.1:c.96+163A>G	ENSP00000512365.1:n.96+163A>G
ENST00000696064.1:c.-153A>G	ENSP00000512367.1:n.-153A>G
ENST00000535573.1:n.297A>G
ENST00000536076.1:n.178A>G
XM_011528479.1:c.-292A>G	XP_011526781.1:n.-292A>G