Canonical Allele Identifier: CA179734

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114673972G>A , CM000663.2:g.114673972G>A	GRCh38
NC_000001.10:g.115216593G>A , CM000663.1:g.115216593G>A	GRCh37
NC_000001.9:g.115018116G>A	NCBI36
NG_008012.1:g.26584C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1899C>T	ENSP00000358551.4:p.Phe633=
ENST00000520113.7:c.1911C>T MANE Select	ENSP00000430075.3:p.Phe637=
ENST00000637080.1:c.1694C>T	ENSP00000489753.1:n.1694C>T
ENST00000638214.1:n.1024C>T
ENST00000639077.1:n.1433C>T
ENST00000639274.1:n.541C>T
ENST00000369538.3:c.1998C>T	ENSP00000358551.3:p.Phe666=
ENST00000520113.6:c.2010C>T	ENSP00000430075.2:p.Phe670=
NM_000036.2:c.2010C>T	NP_000027.2:p.Phe670=
NM_001172626.1:c.1998C>T	NP_001166097.1:p.Phe666=
NM_000036.3:c.1911C>T MANE Select	NP_000027.3:p.Phe637=
NM_001172626.2:c.1899C>T	NP_001166097.2:p.Phe633=