Canonical Allele Identifier: CA10629752

Gene: AMPD3

Linked Data

• ClinVar Variation Id: 302144
• ClinVar RCV Id: RCV000271017
• dbSNP Id: rs58115104
• gnomAD v2: 11-10476919-T-G
• gnomAD v3: 11-10455372-T-G
• gnomAD v4: 11-10455372-T-G
• MyVariant Identifiers: chr11:g.10476919T>G (hg19) ; chr11:g.10455372T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10455372T>G , CM000673.2:g.10455372T>G	GRCh38
NC_000011.9:g.10476919T>G , CM000673.1:g.10476919T>G	GRCh37
NC_000011.8:g.10433495T>G	NCBI36
NG_012041.1:g.9696T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396553.7:c.-82T>G MANE Select	ENSP00000379801.2:n.-82T>G
ENST00000396553.6:c.-82T>G	ENSP00000379801.2:n.-82T>G
ENST00000396554.7:c.22+4329T>G	ENSP00000379802.3:n.22+4329T>G
ENST00000444303.6:c.-278+4857T>G	ENSP00000396000.2:n.-278+4857T>G
ENST00000524866.5:c.-82T>G	ENSP00000433284.1:n.-82T>G
ENST00000529835.6:n.195+4857T>G
ENST00000532250.5:c.-5-6143T>G	ENSP00000432707.1:n.-5-6143T>G
ENST00000534047.5:c.22+4329T>G	ENSP00000433937.1:n.22+4329T>G
NM_000480.2:c.22+4329T>G	NP_000471.1:n.22+4329T>G
NM_001025389.1:c.-82T>G	NP_001020560.1:n.-82T>G
NM_001172431.1:c.-278+4857T>G	NP_001165902.1:n.-278+4857T>G
NM_000480.3:c.22+4329T>G	NP_000471.1:n.22+4329T>G
NM_001025389.2:c.-82T>G MANE Select	NP_001020560.1:n.-82T>G
NM_001172431.2:c.-278+4857T>G	NP_001165902.1:n.-278+4857T>G