Canonical Allele Identifier: CA2647249046
Gene: AMPD1 HGNC NCBI

Linked Data

gnomAD v4: 1-114679453-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114679453T>C , CM000663.2:g.114679453T>C GRCh38
NC_000001.10:g.115222074T>C , CM000663.1:g.115222074T>C GRCh37
NC_000001.9:g.115023597T>C NCBI36
NG_008012.1:g.21103A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.885+126A>G ENSP00000358551.4:n.885+126A>G
ENST00000520113.7:c.897+126A>G MANE Select ENSP00000430075.3:n.897+126A>G
ENST00000637080.1:c.680+126A>G ENSP00000489753.1:n.680+126A>G
ENST00000639077.1:n.562+126A>G
ENST00000369538.3:c.984+126A>G ENSP00000358551.3:n.984+126A>G
ENST00000520113.6:c.996+126A>G ENSP00000430075.2:n.996+126A>G
NM_000036.2:c.996+126A>G NP_000027.2:n.996+126A>G
NM_001172626.1:c.984+126A>G NP_001166097.1:n.984+126A>G
NM_000036.3:c.897+126A>G MANE Select NP_000027.3:n.897+126A>G
NM_001172626.2:c.885+126A>G NP_001166097.2:n.885+126A>G
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