Canonical Allele Identifier: CA419883112
Gene: AMPD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.115220603T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677982T>G , CM000663.2:g.114677982T>G GRCh38
NC_000001.10:g.115220603T>G , CM000663.1:g.115220603T>G GRCh37
NC_000001.9:g.115022126T>G NCBI36
NG_008012.1:g.22574A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1140A>C ENSP00000358551.4:p.Ala380=
ENST00000520113.7:c.1152A>C MANE Select ENSP00000430075.3:p.Ala384=
ENST00000637080.1:n.935A>C ENSP00000489753.1:n.935A>C
ENST00000639077.1:n.817A>C
ENST00000369538.3:c.1239A>C ENSP00000358551.3:p.Ala413=
ENST00000520113.6:c.1251A>C ENSP00000430075.2:p.Ala417=
NM_000036.2:c.1251A>C NP_000027.2:p.Ala417=
NM_001172626.1:c.1239A>C NP_001166097.1:p.Ala413=
NM_000036.3:c.1152A>C MANE Select NP_000027.3:p.Ala384=
NM_001172626.2:c.1140A>C NP_001166097.2:p.Ala380=