Canonical Allele Identifier: CA341735142

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114693436G>C , CM000663.2:g.114693436G>C	GRCh38
NC_000001.10:g.115236057G>C , CM000663.1:g.115236057G>C	GRCh37
NC_000001.9:g.115037580G>C	NCBI36
NG_008012.1:g.7120C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000036.3:c.34C>G MANE Select	NP_000027.3:p.Gln12Glu
ENST00000520113.7:c.34C>G MANE Select	ENSP00000430075.3:p.Gln12Glu
NM_000036.2:c.133C>G	NP_000027.2:p.Gln45Glu
NM_001172626.1:c.121+2014C>G	NP_001166097.1:n.121+2014C>G
NM_001172626.2:c.22+2014C>G	NP_001166097.2:n.22+2014C>G
ENST00000369538.3:c.121+2014C>G	ENSP00000358551.3:n.121+2014C>G
ENST00000369538.4:c.22+2014C>G	ENSP00000358551.4:n.22+2014C>G
ENST00000520113.6:c.133C>G	ENSP00000430075.2:p.Gln45Glu
ENST00000637080.1:c.37+2001C>G	ENSP00000489753.1:n.37+2001C>G