Canonical Allele Identifier: CA341752351
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1570848044

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684222A>C , CM000663.2:g.114684222A>C GRCh38
NC_000001.10:g.115226843A>C , CM000663.1:g.115226843A>C GRCh37
NC_000001.9:g.115028366A>C NCBI36
NG_008012.1:g.16334T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.512T>G ENSP00000358551.4:p.Val171Gly
ENST00000520113.7:c.524T>G MANE Select ENSP00000430075.3:p.Val175Gly
ENST00000637080.1:c.527T>G ENSP00000489753.1:p.Val176Gly
ENST00000639077.1:n.189T>G
ENST00000369538.3:c.611T>G ENSP00000358551.3:p.Val204Gly
ENST00000485564.3:n.398T>G
ENST00000520113.6:c.623T>G ENSP00000430075.2:p.Val208Gly
NM_000036.2:c.623T>G NP_000027.2:p.Val208Gly
NM_001172626.1:c.611T>G NP_001166097.1:p.Val204Gly
NM_000036.3:c.524T>G MANE Select NP_000027.3:p.Val175Gly
NM_001172626.2:c.512T>G NP_001166097.2:p.Val171Gly