Canonical Allele Identifier: CA217639835
Gene: AMPD3 HGNC NCBI

Linked Data

dbSNP Id: rs190214670
gnomAD v2: 11-10390598-T-C
gnomAD v3: 11-10369051-T-C
gnomAD v4: 11-10369051-T-C
MyVariant Identifiers: chr11:g.10390598T>C (hg19) chr11:g.10369051T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.10369051T>C , CM000673.2:g.10369051T>C GRCh38
NC_000011.9:g.10390598T>C , CM000673.1:g.10390598T>C GRCh37
NC_000011.8:g.10347174T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295663.9:n.51-23231T>C
ENST00000527261.5:n.501+38342T>C
ENST00000532250.5:c.-6+38342T>C ENSP00000432707.1:n.-6+38342T>C
ENST00000532966.1:n.119+11660T>C
NR_103765.1:n.501+38342T>C
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