Canonical Allele Identifier: CA1020190

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677920G>A , CM000663.2:g.114677920G>A	GRCh38
NC_000001.10:g.115220541G>A , CM000663.1:g.115220541G>A	GRCh37
NC_000001.9:g.115022064G>A	NCBI36
NG_008012.1:g.22636C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000036.3:c.1214C>T MANE Select	NP_000027.3:p.Thr405Ile
ENST00000520113.7:c.1214C>T MANE Select	ENSP00000430075.3:p.Thr405Ile
NM_000036.2:c.1313C>T	NP_000027.2:p.Thr438Ile
NM_001172626.1:c.1301C>T	NP_001166097.1:p.Thr434Ile
NM_001172626.2:c.1202C>T	NP_001166097.2:p.Thr401Ile
ENST00000369538.3:c.1301C>T	ENSP00000358551.3:p.Thr434Ile
ENST00000369538.4:c.1202C>T	ENSP00000358551.4:p.Thr401Ile
ENST00000520113.6:c.1313C>T	ENSP00000430075.2:p.Thr438Ile
ENST00000637080.1:c.997C>T	ENSP00000489753.1:n.997C>T
ENST00000639077.1:n.879C>T