Canonical Allele Identifier: CA341750051
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs34526199

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114679616T>C , CM000663.2:g.114679616T>C GRCh38
NC_000001.10:g.115222237T>C , CM000663.1:g.115222237T>C GRCh37
NC_000001.9:g.115023760T>C NCBI36
NG_008012.1:g.20940A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.848A>G ENSP00000358551.4:p.Lys283Arg
ENST00000520113.7:c.860A>G MANE Select ENSP00000430075.3:p.Lys287Arg
ENST00000637080.1:c.643A>G ENSP00000489753.1:n.643A>G
ENST00000639077.1:n.525A>G
ENST00000369538.3:c.947A>G ENSP00000358551.3:p.Lys316Arg
ENST00000520113.6:c.959A>G ENSP00000430075.2:p.Lys320Arg
NM_000036.2:c.959A>G NP_000027.2:p.Lys320Arg
NM_001172626.1:c.947A>G NP_001166097.1:p.Lys316Arg
NM_000036.3:c.860A>G MANE Select NP_000027.3:p.Lys287Arg
NM_001172626.2:c.848A>G NP_001166097.2:p.Lys283Arg