Canonical Allele Identifier: CA2647248186

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677873-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677873A>T , CM000663.2:g.114677873A>T	GRCh38
NC_000001.10:g.115220494A>T , CM000663.1:g.115220494A>T	GRCh37
NC_000001.9:g.115022017A>T	NCBI36
NG_008012.1:g.22683T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+37T>A	ENSP00000358551.4:n.1212+37T>A
ENST00000520113.7:c.1224+37T>A MANE Select	ENSP00000430075.3:n.1224+37T>A
ENST00000637080.1:c.1007+37T>A	ENSP00000489753.1:n.1007+37T>A
ENST00000639077.1:n.889+37T>A
ENST00000369538.3:c.1311+37T>A	ENSP00000358551.3:n.1311+37T>A
ENST00000520113.6:c.1323+37T>A	ENSP00000430075.2:n.1323+37T>A
NM_000036.2:c.1323+37T>A	NP_000027.2:n.1323+37T>A
NM_001172626.1:c.1311+37T>A	NP_001166097.1:n.1311+37T>A
NM_000036.3:c.1224+37T>A MANE Select	NP_000027.3:n.1224+37T>A
NM_001172626.2:c.1212+37T>A	NP_001166097.2:n.1212+37T>A