Canonical Allele Identifier: CA1020403
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs377129691
ExAC: 1:115226802 A / G
gnomAD v2: 1-115226802-A-G
gnomAD v4: 1-114684181-A-G
MyVariant Identifiers: chr1:g.115226802A>G (hg19) chr1:g.114684181A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684181A>G , CM000663.2:g.114684181A>G GRCh38
NC_000001.10:g.115226802A>G , CM000663.1:g.115226802A>G GRCh37
NC_000001.9:g.115028325A>G NCBI36
NG_008012.1:g.16375T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.535+18T>C ENSP00000358551.4:n.535+18T>C
ENST00000520113.7:c.547+18T>C MANE Select ENSP00000430075.3:n.547+18T>C
ENST00000637080.1:c.550+18T>C ENSP00000489753.1:n.550+18T>C
ENST00000639077.1:n.212+18T>C
ENST00000369538.3:c.634+18T>C ENSP00000358551.3:n.634+18T>C
ENST00000485564.3:n.421+18T>C
ENST00000520113.6:c.646+18T>C ENSP00000430075.2:n.646+18T>C
NM_000036.2:c.646+18T>C NP_000027.2:n.646+18T>C
NM_001172626.1:c.634+18T>C NP_001166097.1:n.634+18T>C
NM_000036.3:c.547+18T>C MANE Select NP_000027.3:n.547+18T>C
NM_001172626.2:c.535+18T>C NP_001166097.2:n.535+18T>C
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