Canonical Allele Identifier: CA341749093
Gene: AMPD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.115220598T>G (hg19) chr1:g.114677977T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677977T>G , CM000663.2:g.114677977T>G GRCh38
NC_000001.10:g.115220598T>G , CM000663.1:g.115220598T>G GRCh37
NC_000001.9:g.115022121T>G NCBI36
NG_008012.1:g.22579A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1145A>C ENSP00000358551.4:p.Glu382Ala
ENST00000520113.7:c.1157A>C MANE Select ENSP00000430075.3:p.Glu386Ala
ENST00000637080.1:c.940A>C ENSP00000489753.1:n.940A>C
ENST00000639077.1:n.822A>C
ENST00000369538.3:c.1244A>C ENSP00000358551.3:p.Glu415Ala
ENST00000520113.6:c.1256A>C ENSP00000430075.2:p.Glu419Ala
NM_000036.2:c.1256A>C NP_000027.2:p.Glu419Ala
NM_001172626.1:c.1244A>C NP_001166097.1:p.Glu415Ala
NM_000036.3:c.1157A>C MANE Select NP_000027.3:p.Glu386Ala
NM_001172626.2:c.1145A>C NP_001166097.2:p.Glu382Ala
Search 100 bp 5'
Search 100 bp 3'