Canonical Allele Identifier: CA419883535

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226950A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684329A>C , CM000663.2:g.114684329A>C	GRCh38
NC_000001.10:g.115226950A>C , CM000663.1:g.115226950A>C	GRCh37
NC_000001.9:g.115028473A>C	NCBI36
NG_008012.1:g.16227T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.405T>G	ENSP00000358551.4:p.Gly135=
ENST00000520113.7:c.417T>G MANE Select	ENSP00000430075.3:p.Gly139=
ENST00000637080.1:c.420T>G	ENSP00000489753.1:p.Gly140=
ENST00000639077.1:n.82T>G
ENST00000369538.3:c.504T>G	ENSP00000358551.3:p.Gly168=
ENST00000485564.3:n.291T>G
ENST00000520113.6:c.516T>G	ENSP00000430075.2:p.Gly172=
NM_000036.2:c.516T>G	NP_000027.2:p.Gly172=
NM_001172626.1:c.504T>G	NP_001166097.1:p.Gly168=
NM_000036.3:c.417T>G MANE Select	NP_000027.3:p.Gly139=
NM_001172626.2:c.405T>G	NP_001166097.2:p.Gly135=