Canonical Allele Identifier: CA1147604236

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677943G= , CM000663.2:g.114677943G=	GRCh38
NC_000001.10:g.115220564G= , CM000663.1:g.115220564G=	GRCh37
NC_000001.9:g.115022087G=	NCBI36
NG_008012.1:g.22613C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1179C=	ENSP00000358551.4:p.Tyr393=
ENST00000520113.7:c.1191C= MANE Select	ENSP00000430075.3:p.Tyr397=
ENST00000637080.1:c.974C=	ENSP00000489753.1:n.974C=
ENST00000639077.1:n.856C=
ENST00000369538.3:c.1278C=	ENSP00000358551.3:p.Tyr426=
ENST00000520113.6:c.1290C=	ENSP00000430075.2:p.Tyr430=
NM_000036.2:c.1290C=	NP_000027.2:p.Tyr430=
NM_001172626.1:c.1278C=	NP_001166097.1:p.Tyr426=
NM_000036.3:c.1191C= MANE Select	NP_000027.3:p.Tyr397=
NM_001172626.2:c.1179C=	NP_001166097.2:p.Tyr393=