Canonical Allele Identifier: CA217639700

Gene: AMPD3

Linked Data

• dbSNP Id: rs769493523
• gnomAD v2: 11-10390487-G-A
• gnomAD v3: 11-10368940-G-A
• gnomAD v4: 11-10368940-G-A
• MyVariant Identifiers: chr11:g.10390487G>A (hg19) ; chr11:g.10368940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10368940G>A , CM000673.2:g.10368940G>A	GRCh38
NC_000011.9:g.10390487G>A , CM000673.1:g.10390487G>A	GRCh37
NC_000011.8:g.10347063G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295663.9:n.51-23342G>A
ENST00000527261.5:n.501+38231G>A
ENST00000532250.5:c.-6+38231G>A	ENSP00000432707.1:n.-6+38231G>A
ENST00000532966.1:n.119+11549G>A
NR_103765.1:n.501+38231G>A