Canonical Allele Identifier: CA1190281970

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684363A= , CM000663.2:g.114684363A=	GRCh38
NC_000001.10:g.115226984A= , CM000663.1:g.115226984A=	GRCh37
NC_000001.9:g.115028507A=	NCBI36
NG_008012.1:g.16193T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.371T=	ENSP00000358551.4:p.Val124=
ENST00000520113.7:c.383T= MANE Select	ENSP00000430075.3:p.Val128=
ENST00000637080.1:c.386T=	ENSP00000489753.1:p.Val129=
ENST00000639077.1:n.48T=
ENST00000369538.3:c.470T=	ENSP00000358551.3:p.Val157=
ENST00000485564.3:n.257T=
ENST00000520113.6:c.482T=	ENSP00000430075.2:p.Val161=
NM_000036.2:c.482T=	NP_000027.2:p.Val161=
NM_001172626.1:c.470T=	NP_001166097.1:p.Val157=
NM_000036.3:c.383T= MANE Select	NP_000027.3:p.Val128=
NM_001172626.2:c.371T=	NP_001166097.2:p.Val124=