Canonical Allele Identifier: CA1005999162

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658026027
• gnomAD v3: 1-114677551-C-A
• gnomAD v4: 1-114677551-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677551C>A , CM000663.2:g.114677551C>A	GRCh38
NC_000001.10:g.115220172C>A , CM000663.1:g.115220172C>A	GRCh37
NC_000001.9:g.115021695C>A	NCBI36
NG_008012.1:g.23005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1213-37G>T	ENSP00000358551.4:n.1213-37G>T
ENST00000520113.7:c.1225-37G>T MANE Select	ENSP00000430075.3:n.1225-37G>T
ENST00000637080.1:c.1008-37G>T	ENSP00000489753.1:n.1008-37G>T
ENST00000639077.1:n.890-37G>T
ENST00000369538.3:c.1312-37G>T	ENSP00000358551.3:n.1312-37G>T
ENST00000520113.6:c.1324-37G>T	ENSP00000430075.2:n.1324-37G>T
NM_000036.2:c.1324-37G>T	NP_000027.2:n.1324-37G>T
NM_001172626.1:c.1312-37G>T	NP_001166097.1:n.1312-37G>T
NM_000036.3:c.1225-37G>T MANE Select	NP_000027.3:n.1225-37G>T
NM_001172626.2:c.1213-37G>T	NP_001166097.2:n.1213-37G>T