Canonical Allele Identifier: CA341745886

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114674780T>G , CM000663.2:g.114674780T>G	GRCh38
NC_000001.10:g.115217401T>G , CM000663.1:g.115217401T>G	GRCh37
NC_000001.9:g.115018924T>G	NCBI36
NG_008012.1:g.25776A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000036.3:c.1772A>C MANE Select	NP_000027.3:p.Asp591Ala
ENST00000520113.7:c.1772A>C MANE Select	ENSP00000430075.3:p.Asp591Ala
NM_000036.2:c.1871A>C	NP_000027.2:p.Asp624Ala
NM_001172626.1:c.1859A>C	NP_001166097.1:p.Asp620Ala
NM_001172626.2:c.1760A>C	NP_001166097.2:p.Asp587Ala
ENST00000369538.3:c.1859A>C	ENSP00000358551.3:p.Asp620Ala
ENST00000369538.4:c.1760A>C	ENSP00000358551.4:p.Asp587Ala
ENST00000520113.6:c.1871A>C	ENSP00000430075.2:p.Asp624Ala
ENST00000637080.1:c.1555A>C	ENSP00000489753.1:n.1555A>C
ENST00000638214.1:n.885A>C
ENST00000639077.1:n.1294A>C
ENST00000639274.1:n.402A>C