Canonical Allele Identifier: CA341747170

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114675680T>C , CM000663.2:g.114675680T>C	GRCh38
NC_000001.10:g.115218301T>C , CM000663.1:g.115218301T>C	GRCh37
NC_000001.9:g.115019824T>C	NCBI36
NG_008012.1:g.24876A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000036.3:c.1529A>G MANE Select	NP_000027.3:p.Asp510Gly
ENST00000520113.7:c.1529A>G MANE Select	ENSP00000430075.3:p.Asp510Gly
NM_000036.2:c.1628A>G	NP_000027.2:p.Asp543Gly
NM_001172626.1:c.1616A>G	NP_001166097.1:p.Asp539Gly
NM_001172626.2:c.1517A>G	NP_001166097.2:p.Asp506Gly
ENST00000369538.3:c.1616A>G	ENSP00000358551.3:p.Asp539Gly
ENST00000369538.4:c.1517A>G	ENSP00000358551.4:p.Asp506Gly
ENST00000520113.6:c.1628A>G	ENSP00000430075.2:p.Asp543Gly
ENST00000637080.1:c.1312A>G	ENSP00000489753.1:n.1312A>G
ENST00000638214.1:n.559A>G
ENST00000639077.1:n.1086-35A>G
ENST00000639274.1:n.159A>G