Canonical Allele Identifier: CA341735180
Gene: AMPD1 HGNC NCBI

Linked Data

gnomAD v4: 1-114693442-C-T
MyVariant Identifiers: chr1:g.115236063C>T (hg19) chr1:g.114693442C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114693442C>T , CM000663.2:g.114693442C>T GRCh38
NC_000001.10:g.115236063C>T , CM000663.1:g.115236063C>T GRCh37
NC_000001.9:g.115037586C>T NCBI36
NG_008012.1:g.7114G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.22+2008G>A ENSP00000358551.4:n.22+2008G>A
ENST00000520113.7:c.28G>A MANE Select ENSP00000430075.3:p.Glu10Lys
ENST00000637080.1:c.37+1995G>A ENSP00000489753.1:n.37+1995G>A
ENST00000369538.3:c.121+2008G>A ENSP00000358551.3:n.121+2008G>A
ENST00000520113.6:c.127G>A ENSP00000430075.2:p.Glu43Lys
NM_000036.2:c.127G>A NP_000027.2:p.Glu43Lys
NM_001172626.1:c.121+2008G>A NP_001166097.1:n.121+2008G>A
NM_000036.3:c.28G>A MANE Select NP_000027.3:p.Glu10Lys
NM_001172626.2:c.22+2008G>A NP_001166097.2:n.22+2008G>A
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