Canonical Allele Identifier: CA2647247341
Gene: AMPD1 HGNC NCBI

Linked Data

gnomAD v4: 1-114677589-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677589C>G , CM000663.2:g.114677589C>G GRCh38
NC_000001.10:g.115220210C>G , CM000663.1:g.115220210C>G GRCh37
NC_000001.9:g.115021733C>G NCBI36
NG_008012.1:g.22967G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1213-75G>C ENSP00000358551.4:n.1213-75G>C
ENST00000520113.7:c.1225-75G>C MANE Select ENSP00000430075.3:n.1225-75G>C
ENST00000637080.1:c.1008-75G>C ENSP00000489753.1:n.1008-75G>C
ENST00000639077.1:n.890-75G>C
ENST00000369538.3:c.1312-75G>C ENSP00000358551.3:n.1312-75G>C
ENST00000520113.6:c.1324-75G>C ENSP00000430075.2:n.1324-75G>C
NM_000036.2:c.1324-75G>C NP_000027.2:n.1324-75G>C
NM_001172626.1:c.1312-75G>C NP_001166097.1:n.1312-75G>C
NM_000036.3:c.1225-75G>C MANE Select NP_000027.3:n.1225-75G>C
NM_001172626.2:c.1213-75G>C NP_001166097.2:n.1213-75G>C
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