Canonical Allele Identifier: CA315457356

Gene: ADA

Linked Data

• dbSNP Id: rs908572853
• gnomAD v2: 20-43280553-G-A
• gnomAD v3: 20-44651912-G-A
• gnomAD v4: 20-44651912-G-A
• MyVariant Identifiers: chr20:g.43280553G>A (hg19) ; chr20:g.44651912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651912G>A , CM000682.2:g.44651912G>A	GRCh38
NC_000020.10:g.43280553G>A , CM000682.1:g.43280553G>A	GRCh37
NC_000020.9:g.42713967G>A	NCBI36
NG_007385.1:g.4824C>T , LRG_16:g.4824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-131C>T	ENSP00000512234.1:n.-131C>T
ENST00000696039.1:n.311C>T
ENST00000696062.1:c.96+188C>T	ENSP00000512365.1:n.96+188C>T
ENST00000696064.1:c.-128C>T	ENSP00000512367.1:n.-128C>T
ENST00000696065.1:c.-131C>T	ENSP00000512368.1:n.-131C>T
ENST00000535573.1:n.322C>T
ENST00000536076.1:n.203C>T
XM_011528479.1:c.-267C>T	XP_011526781.1:n.-267C>T