Canonical Allele Identifier: CA419883113
Gene: AMPD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.115220606T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677985T>A , CM000663.2:g.114677985T>A GRCh38
NC_000001.10:g.115220606T>A , CM000663.1:g.115220606T>A GRCh37
NC_000001.9:g.115022129T>A NCBI36
NG_008012.1:g.22571A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1137A>T ENSP00000358551.4:p.Gly379=
ENST00000520113.7:c.1149A>T MANE Select ENSP00000430075.3:p.Gly383=
ENST00000637080.1:n.932A>T ENSP00000489753.1:n.932A>T
ENST00000639077.1:n.814A>T
ENST00000369538.3:c.1236A>T ENSP00000358551.3:p.Gly412=
ENST00000520113.6:c.1248A>T ENSP00000430075.2:p.Gly416=
NM_000036.2:c.1248A>T NP_000027.2:p.Gly416=
NM_001172626.1:c.1236A>T NP_001166097.1:p.Gly412=
NM_000036.3:c.1149A>T MANE Select NP_000027.3:p.Gly383=
NM_001172626.2:c.1137A>T NP_001166097.2:p.Gly379=