Canonical Allele Identifier: CA2652992676

Gene: ADA

Linked Data

• gnomAD v4: 20-44651912-G-T

Genomic Alleles

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

Transcript Alleles

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