Canonical Allele Identifier: CA266020

Gene: ADA

Linked Data

• ClinVar Variation Id: 68267
• ClinVar RCV Id: RCV000059109 ; RCV000494092
• dbSNP Id: rs121908724
• gnomAD: 20:43264905 C / T
• MyVariant Identifiers: chr20:g.43264905C>T (hg19) ; chr20:g.44636264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44636264C>T , CM000682.2:g.44636264C>T	GRCh38
NC_000020.10:g.43264905C>T , CM000682.1:g.43264905C>T	GRCh37
NC_000020.9:g.42698319C>T	NCBI36
NG_007385.1:g.20472G>A , LRG_16:g.20472G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372874.8:c.58G>A	ENSP00000361965.4:p.Gly20Arg
ENST00000536532.5:c.58G>A	ENSP00000440946.1:p.Gly20Arg
ENST00000537820.1:c.58G>A	ENSP00000441818.1:p.Gly20Arg
ENST00000539235.5:c.58G>A	ENSP00000446464.1:p.Gly20Arg
NM_000022.2:c.58G>A , LRG_16t1:c.58G>A	NP_000013.2:p.Gly20Arg
XM_005260236.2:c.58G>A	XP_005260293.1:p.Gly20Arg
XM_011528478.1:c.-232G>A	XP_011526780.1:p.=
XM_011528479.1:c.-232G>A	XP_011526781.1:p.=
NM_000022.3:c.58G>A	NP_000013.2:p.Gly20Arg
NM_001322050.1:c.-232G>A	NP_001308979.1:p.=
NM_001322051.1:c.58G>A	NP_001308980.1:p.Gly20Arg
NM_000022.4:c.58G>A MANE Select	NP_000013.2:p.Gly20Arg
NM_001322050.2:c.-232G>A	NP_001308979.1:p.=
NM_001322051.2:c.58G>A	NP_001308980.1:p.Gly20Arg