Canonical Allele Identifier: CA341735159
Gene: AMPD1 HGNC NCBI

Linked Data

gnomAD v4: 1-114693438-T-G
MyVariant Identifiers: chr1:g.115236059T>G (hg19) chr1:g.114693438T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114693438T>G , CM000663.2:g.114693438T>G GRCh38
NC_000001.10:g.115236059T>G , CM000663.1:g.115236059T>G GRCh37
NC_000001.9:g.115037582T>G NCBI36
NG_008012.1:g.7118A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.22+2012A>C ENSP00000358551.4:n.22+2012A>C
ENST00000520113.7:c.32A>C MANE Select ENSP00000430075.3:p.Lys11Thr
ENST00000637080.1:c.37+1999A>C ENSP00000489753.1:n.37+1999A>C
ENST00000369538.3:c.121+2012A>C ENSP00000358551.3:n.121+2012A>C
ENST00000520113.6:c.131A>C ENSP00000430075.2:p.Lys44Thr
NM_000036.2:c.131A>C NP_000027.2:p.Lys44Thr
NM_001172626.1:c.121+2012A>C NP_001166097.1:n.121+2012A>C
NM_000036.3:c.32A>C MANE Select NP_000027.3:p.Lys11Thr
NM_001172626.2:c.22+2012A>C NP_001166097.2:n.22+2012A>C
Search 100 bp 5'
Search 100 bp 3'