Canonical Allele Identifier: CA419883525

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226938T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684317T>C , CM000663.2:g.114684317T>C	GRCh38
NC_000001.10:g.115226938T>C , CM000663.1:g.115226938T>C	GRCh37
NC_000001.9:g.115028461T>C	NCBI36
NG_008012.1:g.16239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.417A>G	ENSP00000358551.4:p.Ala139=
ENST00000520113.7:c.429A>G MANE Select	ENSP00000430075.3:p.Ala143=
ENST00000637080.1:c.432A>G	ENSP00000489753.1:p.Ala144=
ENST00000639077.1:n.94A>G
ENST00000369538.3:c.516A>G	ENSP00000358551.3:p.Ala172=
ENST00000485564.3:n.303A>G
ENST00000520113.6:c.528A>G	ENSP00000430075.2:p.Ala176=
NM_000036.2:c.528A>G	NP_000027.2:p.Ala176=
NM_001172626.1:c.516A>G	NP_001166097.1:p.Ala172=
NM_000036.3:c.429A>G MANE Select	NP_000027.3:p.Ala143=
NM_001172626.2:c.417A>G	NP_001166097.2:p.Ala139=