Canonical Allele Identifier: CA341735240
Gene: AMPD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.115236069C>G (hg19) chr1:g.114693448C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114693448C>G , CM000663.2:g.114693448C>G GRCh38
NC_000001.10:g.115236069C>G , CM000663.1:g.115236069C>G GRCh37
NC_000001.9:g.115037592C>G NCBI36
NG_008012.1:g.7108G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.22+2002G>C ENSP00000358551.4:n.22+2002G>C
ENST00000520113.7:c.23-1G>C MANE Select ENSP00000430075.3:n.23-1G>C
ENST00000637080.1:c.37+1989G>C ENSP00000489753.1:n.37+1989G>C
ENST00000369538.3:c.121+2002G>C ENSP00000358551.3:n.121+2002G>C
ENST00000520113.6:c.122-1G>C ENSP00000430075.2:n.122-1G>C
NM_000036.2:c.122-1G>C NP_000027.2:n.122-1G>C
NM_001172626.1:c.121+2002G>C NP_001166097.1:n.121+2002G>C
NM_000036.3:c.23-1G>C MANE Select NP_000027.3:n.23-1G>C
NM_001172626.2:c.22+2002G>C NP_001166097.2:n.22+2002G>C
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