Canonical Allele Identifier: CA2647253222

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684181-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684181A>T , CM000663.2:g.114684181A>T	GRCh38
NC_000001.10:g.115226802A>T , CM000663.1:g.115226802A>T	GRCh37
NC_000001.9:g.115028325A>T	NCBI36
NG_008012.1:g.16375T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.535+18T>A	ENSP00000358551.4:n.535+18T>A
ENST00000520113.7:c.547+18T>A MANE Select	ENSP00000430075.3:n.547+18T>A
ENST00000637080.1:c.550+18T>A	ENSP00000489753.1:n.550+18T>A
ENST00000639077.1:n.212+18T>A
ENST00000369538.3:c.634+18T>A	ENSP00000358551.3:n.634+18T>A
ENST00000485564.3:n.421+18T>A
ENST00000520113.6:c.646+18T>A	ENSP00000430075.2:n.646+18T>A
NM_000036.2:c.646+18T>A	NP_000027.2:n.646+18T>A
NM_001172626.1:c.634+18T>A	NP_001166097.1:n.634+18T>A
NM_000036.3:c.547+18T>A MANE Select	NP_000027.3:n.547+18T>A
NM_001172626.2:c.535+18T>A	NP_001166097.2:n.535+18T>A