Canonical Allele Identifier: CA419883502
Gene: AMPD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.115226890A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684269A>G , CM000663.2:g.114684269A>G GRCh38
NC_000001.10:g.115226890A>G , CM000663.1:g.115226890A>G GRCh37
NC_000001.9:g.115028413A>G NCBI36
NG_008012.1:g.16287T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.465T>C ENSP00000358551.4:p.Pro155=
ENST00000520113.7:c.477T>C MANE Select ENSP00000430075.3:p.Pro159=
ENST00000637080.1:c.480T>C ENSP00000489753.1:p.Pro160=
ENST00000639077.1:n.142T>C
ENST00000369538.3:c.564T>C ENSP00000358551.3:p.Pro188=
ENST00000485564.3:n.351T>C
ENST00000520113.6:c.576T>C ENSP00000430075.2:p.Pro192=
NM_000036.2:c.576T>C NP_000027.2:p.Pro192=
NM_001172626.1:c.564T>C NP_001166097.1:p.Pro188=
NM_000036.3:c.477T>C MANE Select NP_000027.3:p.Pro159=
NM_001172626.2:c.465T>C NP_001166097.2:p.Pro155=