Canonical Allele Identifier: CA1005999710

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658045876
• gnomAD v3: 1-114677872-C-A
• gnomAD v4: 1-114677872-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677872C>A , CM000663.2:g.114677872C>A	GRCh38
NC_000001.10:g.115220493C>A , CM000663.1:g.115220493C>A	GRCh37
NC_000001.9:g.115022016C>A	NCBI36
NG_008012.1:g.22684G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+38G>T	ENSP00000358551.4:n.1212+38G>T
ENST00000520113.7:c.1224+38G>T MANE Select	ENSP00000430075.3:n.1224+38G>T
ENST00000637080.1:c.1007+38G>T	ENSP00000489753.1:n.1007+38G>T
ENST00000639077.1:n.889+38G>T
ENST00000369538.3:c.1311+38G>T	ENSP00000358551.3:n.1311+38G>T
ENST00000520113.6:c.1323+38G>T	ENSP00000430075.2:n.1323+38G>T
NM_000036.2:c.1323+38G>T	NP_000027.2:n.1323+38G>T
NM_001172626.1:c.1311+38G>T	NP_001166097.1:n.1311+38G>T
NM_000036.3:c.1224+38G>T MANE Select	NP_000027.3:n.1224+38G>T
NM_001172626.2:c.1212+38G>T	NP_001166097.2:n.1212+38G>T