Canonical Allele Identifier: CA1190276314

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677480T= , CM000663.2:g.114677480T=	GRCh38
NC_000001.10:g.115220101T= , CM000663.1:g.115220101T=	GRCh37
NC_000001.9:g.115021624T=	NCBI36
NG_008012.1:g.23076A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1247A=	ENSP00000358551.4:p.Gln416=
ENST00000520113.7:c.1259A= MANE Select	ENSP00000430075.3:p.Gln420=
ENST00000637080.1:c.1042A=	ENSP00000489753.1:n.1042A=
ENST00000639077.1:n.924A=
ENST00000369538.3:c.1346A=	ENSP00000358551.3:p.Gln449=
ENST00000520113.6:c.1358A=	ENSP00000430075.2:p.Gln453=
NM_000036.2:c.1358A=	NP_000027.2:p.Gln453=
NM_001172626.1:c.1346A=	NP_001166097.1:p.Gln449=
NM_000036.3:c.1259A= MANE Select	NP_000027.3:p.Gln420=
NM_001172626.2:c.1247A=	NP_001166097.2:p.Gln416=