Canonical Allele Identifier: CA1020450

Gene: AMPD1

Linked Data

• dbSNP Id: rs769079329
• ExAC: 1:115227027 C / T
• gnomAD v2: 1-115227027-C-T
• gnomAD v3: 1-114684406-C-T
• gnomAD v4: 1-114684406-C-T
• MyVariant Identifiers: chr1:g.115227027C>T (hg19) ; chr1:g.114684406C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684406C>T , CM000663.2:g.114684406C>T	GRCh38
NC_000001.10:g.115227027C>T , CM000663.1:g.115227027C>T	GRCh37
NC_000001.9:g.115028550C>T	NCBI36
NG_008012.1:g.16150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-42G>A	ENSP00000358551.4:n.370-42G>A
ENST00000520113.7:c.382-42G>A MANE Select	ENSP00000430075.3:n.382-42G>A
ENST00000637080.1:c.385-42G>A	ENSP00000489753.1:n.385-42G>A
ENST00000639077.1:n.46+38G>A
ENST00000369538.3:c.469-42G>A	ENSP00000358551.3:n.469-42G>A
ENST00000485564.3:n.256-42G>A
ENST00000520113.6:c.481-42G>A	ENSP00000430075.2:n.481-42G>A
NM_000036.2:c.481-42G>A	NP_000027.2:n.481-42G>A
NM_001172626.1:c.469-42G>A	NP_001166097.1:n.469-42G>A
NM_000036.3:c.382-42G>A MANE Select	NP_000027.3:n.382-42G>A
NM_001172626.2:c.370-42G>A	NP_001166097.2:n.370-42G>A