Canonical Allele Identifier: CA419883114
Gene: AMPD1 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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