Canonical Allele Identifier: CA2647247345

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677598-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677598T>A , CM000663.2:g.114677598T>A	GRCh38
NC_000001.10:g.115220219T>A , CM000663.1:g.115220219T>A	GRCh37
NC_000001.9:g.115021742T>A	NCBI36
NG_008012.1:g.22958A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1213-84A>T	ENSP00000358551.4:n.1213-84A>T
ENST00000520113.7:c.1225-84A>T MANE Select	ENSP00000430075.3:n.1225-84A>T
ENST00000637080.1:c.1008-84A>T	ENSP00000489753.1:n.1008-84A>T
ENST00000639077.1:n.890-84A>T
ENST00000369538.3:c.1312-84A>T	ENSP00000358551.3:n.1312-84A>T
ENST00000520113.6:c.1324-84A>T	ENSP00000430075.2:n.1324-84A>T
NM_000036.2:c.1324-84A>T	NP_000027.2:n.1324-84A>T
NM_001172626.1:c.1312-84A>T	NP_001166097.1:n.1312-84A>T
NM_000036.3:c.1225-84A>T MANE Select	NP_000027.3:n.1225-84A>T
NM_001172626.2:c.1213-84A>T	NP_001166097.2:n.1213-84A>T