Canonical Allele Identifier: CA419883493

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226878G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684257G>T , CM000663.2:g.114684257G>T	GRCh38
NC_000001.10:g.115226878G>T , CM000663.1:g.115226878G>T	GRCh37
NC_000001.9:g.115028401G>T	NCBI36
NG_008012.1:g.16299C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.477C>A	ENSP00000358551.4:p.Ser159=
ENST00000520113.7:c.489C>A MANE Select	ENSP00000430075.3:p.Ser163=
ENST00000637080.1:c.492C>A	ENSP00000489753.1:p.Ser164=
ENST00000639077.1:n.154C>A
ENST00000369538.3:c.576C>A	ENSP00000358551.3:p.Ser192=
ENST00000485564.3:n.363C>A
ENST00000520113.6:c.588C>A	ENSP00000430075.2:p.Ser196=
NM_000036.2:c.588C>A	NP_000027.2:p.Ser196=
NM_001172626.1:c.576C>A	NP_001166097.1:p.Ser192=
NM_000036.3:c.489C>A MANE Select	NP_000027.3:p.Ser163=
NM_001172626.2:c.477C>A	NP_001166097.2:p.Ser159=