Canonical Allele Identifier: CA1019993

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114674037C>T , CM000663.2:g.114674037C>T	GRCh38
NC_000001.10:g.115216658C>T , CM000663.1:g.115216658C>T	GRCh37
NC_000001.9:g.115018181C>T	NCBI36
NG_008012.1:g.26519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1834G>A	ENSP00000358551.4:p.Ala612Thr
ENST00000520113.7:c.1846G>A MANE Select	ENSP00000430075.3:p.Ala616Thr
ENST00000637080.1:c.1629G>A	ENSP00000489753.1:n.1629G>A
ENST00000638214.1:n.959G>A
ENST00000639077.1:n.1368G>A
ENST00000639274.1:n.476G>A
ENST00000369538.3:c.1933G>A	ENSP00000358551.3:p.Ala645Thr
ENST00000520113.6:c.1945G>A	ENSP00000430075.2:p.Ala649Thr
NM_000036.2:c.1945G>A	NP_000027.2:p.Ala649Thr
NM_001172626.1:c.1933G>A	NP_001166097.1:p.Ala645Thr
NM_000036.3:c.1846G>A MANE Select	NP_000027.3:p.Ala616Thr
NM_001172626.2:c.1834G>A	NP_001166097.2:p.Ala612Thr