Canonical Allele Identifier: CA341748961

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677918T>G , CM000663.2:g.114677918T>G	GRCh38
NC_000001.10:g.115220539T>G , CM000663.1:g.115220539T>G	GRCh37
NC_000001.9:g.115022062T>G	NCBI36
NG_008012.1:g.22638A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000036.3:c.1216A>C MANE Select	NP_000027.3:p.Ile406Leu
ENST00000520113.7:c.1216A>C MANE Select	ENSP00000430075.3:p.Ile406Leu
NM_000036.2:c.1315A>C	NP_000027.2:p.Ile439Leu
NM_001172626.1:c.1303A>C	NP_001166097.1:p.Ile435Leu
NM_001172626.2:c.1204A>C	NP_001166097.2:p.Ile402Leu
ENST00000369538.3:c.1303A>C	ENSP00000358551.3:p.Ile435Leu
ENST00000369538.4:c.1204A>C	ENSP00000358551.4:p.Ile402Leu
ENST00000520113.6:c.1315A>C	ENSP00000430075.2:p.Ile439Leu
ENST00000637080.1:c.999A>C	ENSP00000489753.1:n.999A>C
ENST00000639077.1:n.881A>C