Canonical Allele Identifier: CA341748967

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677923G>A , CM000663.2:g.114677923G>A	GRCh38
NC_000001.10:g.115220544G>A , CM000663.1:g.115220544G>A	GRCh37
NC_000001.9:g.115022067G>A	NCBI36
NG_008012.1:g.22633C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000036.3:c.1211C>T MANE Select	NP_000027.3:p.Ala404Val
ENST00000520113.7:c.1211C>T MANE Select	ENSP00000430075.3:p.Ala404Val
NM_000036.2:c.1310C>T	NP_000027.2:p.Ala437Val
NM_001172626.1:c.1298C>T	NP_001166097.1:p.Ala433Val
NM_001172626.2:c.1199C>T	NP_001166097.2:p.Ala400Val
ENST00000369538.3:c.1298C>T	ENSP00000358551.3:p.Ala433Val
ENST00000369538.4:c.1199C>T	ENSP00000358551.4:p.Ala400Val
ENST00000520113.6:c.1310C>T	ENSP00000430075.2:p.Ala437Val
ENST00000637080.1:c.994C>T	ENSP00000489753.1:n.994C>T
ENST00000639077.1:n.876C>T