Canonical Allele Identifier: CA1020439
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs758082129
ExAC: 1:115226984 A / T
gnomAD v2: 1-115226984-A-T
gnomAD v4: 1-114684363-A-T
MyVariant Identifiers: chr1:g.115226984A>T (hg19) chr1:g.115226984_115226990delinsTCCTGCC (hg19) chr1:g.114684363A>T (hg38) chr1:g.114684363_114684369delinsTCCTGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684363A>T , CM000663.2:g.114684363A>T GRCh38
NC_000001.10:g.115226984A>T , CM000663.1:g.115226984A>T GRCh37
NC_000001.9:g.115028507A>T NCBI36
NG_008012.1:g.16193T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.371T>A ENSP00000358551.4:p.Val124Asp
ENST00000520113.7:c.383T>A MANE Select ENSP00000430075.3:p.Val128Asp
ENST00000637080.1:c.386T>A ENSP00000489753.1:p.Val129Asp
ENST00000639077.1:n.48T>A
ENST00000369538.3:c.470T>A ENSP00000358551.3:p.Val157Asp
ENST00000485564.3:n.257T>A
ENST00000520113.6:c.482T>A ENSP00000430075.2:p.Val161Asp
NM_000036.2:c.482T>A NP_000027.2:p.Val161Asp
NM_001172626.1:c.470T>A NP_001166097.1:p.Val157Asp
NM_000036.3:c.383T>A MANE Select NP_000027.3:p.Val128Asp
NM_001172626.2:c.371T>A NP_001166097.2:p.Val124Asp
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