Canonical Allele Identifier: CA1020035

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114674843C>T , CM000663.2:g.114674843C>T	GRCh38
NC_000001.10:g.115217464C>T , CM000663.1:g.115217464C>T	GRCh37
NC_000001.9:g.115018987C>T	NCBI36
NG_008012.1:g.25713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1697G>A	ENSP00000358551.4:p.Arg566Gln
ENST00000520113.7:c.1709G>A MANE Select	ENSP00000430075.3:p.Arg570Gln
ENST00000637080.1:c.1492G>A	ENSP00000489753.1:n.1492G>A
ENST00000638214.1:n.822G>A
ENST00000639077.1:n.1231G>A
ENST00000639274.1:n.339G>A
ENST00000369538.3:c.1796G>A	ENSP00000358551.3:p.Arg599Gln
ENST00000520113.6:c.1808G>A	ENSP00000430075.2:p.Arg603Gln
NM_000036.2:c.1808G>A	NP_000027.2:p.Arg603Gln
NM_001172626.1:c.1796G>A	NP_001166097.1:p.Arg599Gln
NM_000036.3:c.1709G>A MANE Select	NP_000027.3:p.Arg570Gln
NM_001172626.2:c.1697G>A	NP_001166097.2:p.Arg566Gln