Canonical Allele Identifier: CA419883103
Gene: AMPD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.115220593G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677972G>T , CM000663.2:g.114677972G>T GRCh38
NC_000001.10:g.115220593G>T , CM000663.1:g.115220593G>T GRCh37
NC_000001.9:g.115022116G>T NCBI36
NG_008012.1:g.22584C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1150C>A ENSP00000358551.4:p.Arg384=
ENST00000520113.7:c.1162C>A MANE Select ENSP00000430075.3:p.Arg388=
ENST00000637080.1:n.945C>A ENSP00000489753.1:n.945C>A
ENST00000639077.1:n.827C>A
ENST00000369538.3:c.1249C>A ENSP00000358551.3:p.Arg417=
ENST00000520113.6:c.1261C>A ENSP00000430075.2:p.Arg421=
NM_000036.2:c.1261C>A NP_000027.2:p.Arg421=
NM_001172626.1:c.1249C>A NP_001166097.1:p.Arg417=
NM_000036.3:c.1162C>A MANE Select NP_000027.3:p.Arg388=
NM_001172626.2:c.1150C>A NP_001166097.2:p.Arg384=