Canonical Allele Identifier: CA341749151
Gene: AMPD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.115220626C>G (hg19) chr1:g.114678005C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114678005C>G , CM000663.2:g.114678005C>G GRCh38
NC_000001.10:g.115220626C>G , CM000663.1:g.115220626C>G GRCh37
NC_000001.9:g.115022149C>G NCBI36
NG_008012.1:g.22551G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1117G>C ENSP00000358551.4:p.Asp373His
ENST00000520113.7:c.1129G>C MANE Select ENSP00000430075.3:p.Asp377His
ENST00000637080.1:c.912G>C ENSP00000489753.1:n.912G>C
ENST00000639077.1:n.794G>C
ENST00000369538.3:c.1216G>C ENSP00000358551.3:p.Asp406His
ENST00000520113.6:c.1228G>C ENSP00000430075.2:p.Asp410His
NM_000036.2:c.1228G>C NP_000027.2:p.Asp410His
NM_001172626.1:c.1216G>C NP_001166097.1:p.Asp406His
NM_000036.3:c.1129G>C MANE Select NP_000027.3:p.Asp377His
NM_001172626.2:c.1117G>C NP_001166097.2:p.Asp373His
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