Canonical Allele Identifier: CA341749090

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677976C>A , CM000663.2:g.114677976C>A	GRCh38
NC_000001.10:g.115220597C>A , CM000663.1:g.115220597C>A	GRCh37
NC_000001.9:g.115022120C>A	NCBI36
NG_008012.1:g.22580G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000036.3:c.1158G>T MANE Select	NP_000027.3:p.Glu386Asp
ENST00000520113.7:c.1158G>T MANE Select	ENSP00000430075.3:p.Glu386Asp
NM_000036.2:c.1257G>T	NP_000027.2:p.Glu419Asp
NM_001172626.1:c.1245G>T	NP_001166097.1:p.Glu415Asp
NM_001172626.2:c.1146G>T	NP_001166097.2:p.Glu382Asp
ENST00000369538.3:c.1245G>T	ENSP00000358551.3:p.Glu415Asp
ENST00000369538.4:c.1146G>T	ENSP00000358551.4:p.Glu382Asp
ENST00000520113.6:c.1257G>T	ENSP00000430075.2:p.Glu419Asp
ENST00000637080.1:c.941G>T	ENSP00000489753.1:n.941G>T
ENST00000639077.1:n.823G>T