Canonical Allele Identifier: CA1020178
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2741002
ClinVar RCV Id: RCV003516692
dbSNP Id: rs373837097
ExAC: 1:115220148 G / T
gnomAD v2: 1-115220148-G-T
gnomAD v3: 1-114677527-G-T
gnomAD v4: 1-114677527-G-T
MyVariant Identifiers: chr1:g.115220148G>T (hg19) chr1:g.114677527G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677527G>T , CM000663.2:g.114677527G>T GRCh38
NC_000001.10:g.115220148G>T , CM000663.1:g.115220148G>T GRCh37
NC_000001.9:g.115021671G>T NCBI36
NG_008012.1:g.23029C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1213-13C>A ENSP00000358551.4:n.1213-13C>A
ENST00000520113.7:c.1225-13C>A MANE Select ENSP00000430075.3:n.1225-13C>A
ENST00000637080.1:c.1008-13C>A ENSP00000489753.1:n.1008-13C>A
ENST00000639077.1:n.890-13C>A
ENST00000369538.3:c.1312-13C>A ENSP00000358551.3:n.1312-13C>A
ENST00000520113.6:c.1324-13C>A ENSP00000430075.2:n.1324-13C>A
NM_000036.2:c.1324-13C>A NP_000027.2:n.1324-13C>A
NM_001172626.1:c.1312-13C>A NP_001166097.1:n.1312-13C>A
NM_000036.3:c.1225-13C>A MANE Select NP_000027.3:n.1225-13C>A
NM_001172626.2:c.1213-13C>A NP_001166097.2:n.1213-13C>A
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