Canonical Allele Identifier: CA29055386
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs368208363

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677994A>G , CM000663.2:g.114677994A>G GRCh38
NC_000001.10:g.115220615A>G , CM000663.1:g.115220615A>G GRCh37
NC_000001.9:g.115022138A>G NCBI36
NG_008012.1:g.22562T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1128T>C ENSP00000358551.4:p.Asn376=
ENST00000520113.7:c.1140T>C MANE Select ENSP00000430075.3:p.Asn380=
ENST00000637080.1:c.923T>C ENSP00000489753.1:n.923T>C
ENST00000639077.1:n.805T>C
ENST00000369538.3:c.1227T>C ENSP00000358551.3:p.Asn409=
ENST00000520113.6:c.1239T>C ENSP00000430075.2:p.Asn413=
NM_000036.2:c.1239T>C NP_000027.2:p.Asn413=
NM_001172626.1:c.1227T>C NP_001166097.1:p.Asn409=
NM_000036.3:c.1140T>C MANE Select NP_000027.3:p.Asn380=
NM_001172626.2:c.1128T>C NP_001166097.2:p.Asn376=