Canonical Allele Identifier: CA1006003491

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658254792
• gnomAD v3: 1-114684435-C-A
• gnomAD v4: 1-114684435-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684435C>A , CM000663.2:g.114684435C>A	GRCh38
NC_000001.10:g.115227056C>A , CM000663.1:g.115227056C>A	GRCh37
NC_000001.9:g.115028579C>A	NCBI36
NG_008012.1:g.16121G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-71G>T	ENSP00000358551.4:n.370-71G>T
ENST00000520113.7:c.382-71G>T MANE Select	ENSP00000430075.3:n.382-71G>T
ENST00000637080.1:c.385-71G>T	ENSP00000489753.1:n.385-71G>T
ENST00000639077.1:n.46+9G>T
ENST00000369538.3:c.469-71G>T	ENSP00000358551.3:n.469-71G>T
ENST00000485564.3:n.256-71G>T
ENST00000520113.6:c.481-71G>T	ENSP00000430075.2:n.481-71G>T
NM_000036.2:c.481-71G>T	NP_000027.2:n.481-71G>T
NM_001172626.1:c.469-71G>T	NP_001166097.1:n.469-71G>T
NM_000036.3:c.382-71G>T MANE Select	NP_000027.3:n.382-71G>T
NM_001172626.2:c.370-71G>T	NP_001166097.2:n.370-71G>T