Canonical Allele Identifier: CA341749132

Gene: AMPD1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677997A>T , CM000663.2:g.114677997A>T	GRCh38
NC_000001.10:g.115220618A>T , CM000663.1:g.115220618A>T	GRCh37
NC_000001.9:g.115022141A>T	NCBI36
NG_008012.1:g.22559T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1125T>A	ENSP00000358551.4:p.Tyr375Ter
ENST00000520113.7:c.1137T>A MANE Select	ENSP00000430075.3:p.Tyr379Ter
ENST00000637080.1:c.920T>A	ENSP00000489753.1:n.920T>A
ENST00000639077.1:n.802T>A
ENST00000369538.3:c.1224T>A	ENSP00000358551.3:p.Tyr408Ter
ENST00000520113.6:c.1236T>A	ENSP00000430075.2:p.Tyr412Ter
NM_000036.2:c.1236T>A	NP_000027.2:p.Tyr412Ter
NM_001172626.1:c.1224T>A	NP_001166097.1:p.Tyr408Ter
NM_000036.3:c.1137T>A MANE Select	NP_000027.3:p.Tyr379Ter
NM_001172626.2:c.1125T>A	NP_001166097.2:p.Tyr375Ter