Canonical Allele Identifier: CA1020069

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114675619G>A , CM000663.2:g.114675619G>A	GRCh38
NC_000001.10:g.115218240G>A , CM000663.1:g.115218240G>A	GRCh37
NC_000001.9:g.115019763G>A	NCBI36
NG_008012.1:g.24937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1578C>T	ENSP00000358551.4:p.Pro526=
ENST00000520113.7:c.1590C>T MANE Select	ENSP00000430075.3:p.Pro530=
ENST00000637080.1:c.1373C>T	ENSP00000489753.1:n.1373C>T
ENST00000638214.1:n.620C>T
ENST00000639077.1:n.1112C>T
ENST00000639274.1:n.220C>T
ENST00000369538.3:c.1677C>T	ENSP00000358551.3:p.Pro559=
ENST00000520113.6:c.1689C>T	ENSP00000430075.2:p.Pro563=
NM_000036.2:c.1689C>T	NP_000027.2:p.Pro563=
NM_001172626.1:c.1677C>T	NP_001166097.1:p.Pro559=
NM_000036.3:c.1590C>T MANE Select	NP_000027.3:p.Pro530=
NM_001172626.2:c.1578C>T	NP_001166097.2:p.Pro526=