Canonical Allele Identifier: CA670948115

Gene: AMPD3

Linked Data

• dbSNP Id: rs1293807987
• gnomAD v3: 11-10369044-T-C
• gnomAD v4: 11-10369044-T-C
• MyVariant Identifiers: chr11:g.10390591T>C (hg19) ; chr11:g.10369044T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10369044T>C , CM000673.2:g.10369044T>C	GRCh38
NC_000011.9:g.10390591T>C , CM000673.1:g.10390591T>C	GRCh37
NC_000011.8:g.10347167T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295663.9:n.51-23238T>C
ENST00000527261.5:n.501+38335T>C
ENST00000532250.5:c.-6+38335T>C	ENSP00000432707.1:n.-6+38335T>C
ENST00000532966.1:n.119+11653T>C
NR_103765.1:n.501+38335T>C