Canonical Allele Identifier: CA341749110

Gene: AMPD1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677987C>A , CM000663.2:g.114677987C>A	GRCh38
NC_000001.10:g.115220608C>A , CM000663.1:g.115220608C>A	GRCh37
NC_000001.9:g.115022131C>A	NCBI36
NG_008012.1:g.22569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1135G>T	ENSP00000358551.4:p.Gly379Ter
ENST00000520113.7:c.1147G>T MANE Select	ENSP00000430075.3:p.Gly383Ter
ENST00000637080.1:c.930G>T	ENSP00000489753.1:n.930G>T
ENST00000639077.1:n.812G>T
ENST00000369538.3:c.1234G>T	ENSP00000358551.3:p.Gly412Ter
ENST00000520113.6:c.1246G>T	ENSP00000430075.2:p.Gly416Ter
NM_000036.2:c.1246G>T	NP_000027.2:p.Gly416Ter
NM_001172626.1:c.1234G>T	NP_001166097.1:p.Gly412Ter
NM_000036.3:c.1147G>T MANE Select	NP_000027.3:p.Gly383Ter
NM_001172626.2:c.1135G>T	NP_001166097.2:p.Gly379Ter