Canonical Allele Identifier: CA341745244

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114674075A>C , CM000663.2:g.114674075A>C	GRCh38
NC_000001.10:g.115216696A>C , CM000663.1:g.115216696A>C	GRCh37
NC_000001.9:g.115018219A>C	NCBI36
NG_008012.1:g.26481T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1796T>G	ENSP00000358551.4:p.Val599Gly
ENST00000520113.7:c.1808T>G MANE Select	ENSP00000430075.3:p.Val603Gly
ENST00000637080.1:c.1591T>G	ENSP00000489753.1:n.1591T>G
ENST00000638214.1:n.921T>G
ENST00000639077.1:n.1330T>G
ENST00000639274.1:n.438T>G
ENST00000369538.3:c.1895T>G	ENSP00000358551.3:p.Val632Gly
ENST00000520113.6:c.1907T>G	ENSP00000430075.2:p.Val636Gly
NM_000036.2:c.1907T>G	NP_000027.2:p.Val636Gly
NM_001172626.1:c.1895T>G	NP_001166097.1:p.Val632Gly
NM_000036.3:c.1808T>G MANE Select	NP_000027.3:p.Val603Gly
NM_001172626.2:c.1796T>G	NP_001166097.2:p.Val599Gly