Canonical Allele Identifier: CA1020187
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1630679
ClinVar RCV Id: RCV002121363
dbSNP Id: rs191152112

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677903G>A , CM000663.2:g.114677903G>A GRCh38
NC_000001.10:g.115220524G>A , CM000663.1:g.115220524G>A GRCh37
NC_000001.9:g.115022047G>A NCBI36
NG_008012.1:g.22653C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1212+7C>T ENSP00000358551.4:n.1212+7C>T
ENST00000520113.7:c.1224+7C>T MANE Select ENSP00000430075.3:n.1224+7C>T
ENST00000637080.1:n.1007+7C>T ENSP00000489753.1:n.1007+7C>T
ENST00000639077.1:n.889+7C>T
ENST00000369538.3:c.1311+7C>T ENSP00000358551.3:n.1311+7C>T
ENST00000520113.6:c.1323+7C>T ENSP00000430075.2:n.1323+7C>T
NM_000036.2:c.1323+7C>T NP_000027.2:n.1323+7C>T
NM_001172626.1:c.1311+7C>T NP_001166097.1:n.1311+7C>T
NM_000036.3:c.1224+7C>T MANE Select NP_000027.3:n.1224+7C>T
NM_001172626.2:c.1212+7C>T NP_001166097.2:n.1212+7C>T