Canonical Allele Identifier: CA525630873

Gene: AMPD1

Linked Data

• dbSNP Id: rs1392135932
• gnomAD v2: 1-115220247-G-C
• gnomAD v3: 1-114677626-G-C
• gnomAD v4: 1-114677626-G-C
• MyVariant Identifiers: chr1:g.115220247G>C (hg19) ; chr1:g.114677626G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677626G>C , CM000663.2:g.114677626G>C	GRCh38
NC_000001.10:g.115220247G>C , CM000663.1:g.115220247G>C	GRCh37
NC_000001.9:g.115021770G>C	NCBI36
NG_008012.1:g.22930C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1213-112C>G	ENSP00000358551.4:n.1213-112C>G
ENST00000520113.7:c.1225-112C>G MANE Select	ENSP00000430075.3:n.1225-112C>G
ENST00000637080.1:c.1008-112C>G	ENSP00000489753.1:n.1008-112C>G
ENST00000639077.1:n.890-112C>G
ENST00000369538.3:c.1312-112C>G	ENSP00000358551.3:n.1312-112C>G
ENST00000520113.6:c.1324-112C>G	ENSP00000430075.2:n.1324-112C>G
NM_000036.2:c.1324-112C>G	NP_000027.2:n.1324-112C>G
NM_001172626.1:c.1312-112C>G	NP_001166097.1:n.1312-112C>G
NM_000036.3:c.1225-112C>G MANE Select	NP_000027.3:n.1225-112C>G
NM_001172626.2:c.1213-112C>G	NP_001166097.2:n.1213-112C>G