Canonical Allele Identifier: CA1190281753

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684222A= , CM000663.2:g.114684222A=	GRCh38
NC_000001.10:g.115226843A= , CM000663.1:g.115226843A=	GRCh37
NC_000001.9:g.115028366A=	NCBI36
NG_008012.1:g.16334T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.512T=	ENSP00000358551.4:p.Val171=
ENST00000520113.7:c.524T= MANE Select	ENSP00000430075.3:p.Val175=
ENST00000637080.1:c.527T=	ENSP00000489753.1:p.Val176=
ENST00000639077.1:n.189T=
ENST00000369538.3:c.611T=	ENSP00000358551.3:p.Val204=
ENST00000485564.3:n.398T=
ENST00000520113.6:c.623T=	ENSP00000430075.2:p.Val208=
NM_000036.2:c.623T=	NP_000027.2:p.Val208=
NM_001172626.1:c.611T=	NP_001166097.1:p.Val204=
NM_000036.3:c.524T= MANE Select	NP_000027.3:p.Val175=
NM_001172626.2:c.512T=	NP_001166097.2:p.Val171=