Canonical Allele Identifier: CA341742218

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114673134C>G , CM000663.2:g.114673134C>G	GRCh38
NC_000001.10:g.115215755C>G , CM000663.1:g.115215755C>G	GRCh37
NC_000001.9:g.115017278C>G	NCBI36
NG_008012.1:g.27422G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.2212G>C	ENSP00000358551.4:p.Gly738Arg
ENST00000520113.7:c.2224G>C MANE Select	ENSP00000430075.3:p.Gly742Arg
ENST00000637080.1:c.2007G>C	ENSP00000489753.1:n.2007G>C
ENST00000369538.3:c.2311G>C	ENSP00000358551.3:p.Gly771Arg
ENST00000520113.6:c.2323G>C	ENSP00000430075.2:p.Gly775Arg
NM_000036.2:c.2323G>C	NP_000027.2:p.Gly775Arg
NM_001172626.1:c.2311G>C	NP_001166097.1:p.Gly771Arg
NM_000036.3:c.2224G>C MANE Select	NP_000027.3:p.Gly742Arg
NM_001172626.2:c.2212G>C	NP_001166097.2:p.Gly738Arg