Canonical Allele Identifier: CA635985519

Gene: ADA

Linked Data

• dbSNP Id: rs1281556235
• gnomAD v2: 20-43280573-G-A
• MyVariant Identifiers: chr20:g.43280573G>A (hg19) ; chr20:g.44651932G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651932G>A , CM000682.2:g.44651932G>A	GRCh38
NC_000020.10:g.43280573G>A , CM000682.1:g.43280573G>A	GRCh37
NC_000020.9:g.42713987G>A	NCBI36
NG_007385.1:g.4804C>T , LRG_16:g.4804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-151C>T	ENSP00000512234.1:n.-151C>T
ENST00000696039.1:n.291C>T
ENST00000696062.1:c.96+168C>T	ENSP00000512365.1:n.96+168C>T
ENST00000696064.1:c.-148C>T	ENSP00000512367.1:n.-148C>T
ENST00000535573.1:n.302C>T
ENST00000536076.1:n.183C>T
XM_011528479.1:c.-287C>T	XP_011526781.1:n.-287C>T