Canonical Allele Identifier: CA1020040

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114674865C>G , CM000663.2:g.114674865C>G	GRCh38
NC_000001.10:g.115217486C>G , CM000663.1:g.115217486C>G	GRCh37
NC_000001.9:g.115019009C>G	NCBI36
NG_008012.1:g.25691G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1675G>C	ENSP00000358551.4:p.Gly559Arg
ENST00000520113.7:c.1687G>C MANE Select	ENSP00000430075.3:p.Gly563Arg
ENST00000637080.1:c.1470G>C	ENSP00000489753.1:n.1470G>C
ENST00000638214.1:n.800G>C
ENST00000639077.1:n.1209G>C
ENST00000639274.1:n.317G>C
ENST00000369538.3:c.1774G>C	ENSP00000358551.3:p.Gly592Arg
ENST00000520113.6:c.1786G>C	ENSP00000430075.2:p.Gly596Arg
NM_000036.2:c.1786G>C	NP_000027.2:p.Gly596Arg
NM_001172626.1:c.1774G>C	NP_001166097.1:p.Gly592Arg
NM_000036.3:c.1687G>C MANE Select	NP_000027.3:p.Gly563Arg
NM_001172626.2:c.1675G>C	NP_001166097.2:p.Gly559Arg