Canonical Allele Identifier: CA29055384
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs554825859

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677992G>A , CM000663.2:g.114677992G>A GRCh38
NC_000001.10:g.115220613G>A , CM000663.1:g.115220613G>A GRCh37
NC_000001.9:g.115022136G>A NCBI36
NG_008012.1:g.22564C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1130C>T ENSP00000358551.4:p.Pro377Leu
ENST00000520113.7:c.1142C>T MANE Select ENSP00000430075.3:p.Pro381Leu
ENST00000637080.1:c.925C>T ENSP00000489753.1:n.925C>T
ENST00000639077.1:n.807C>T
ENST00000369538.3:c.1229C>T ENSP00000358551.3:p.Pro410Leu
ENST00000520113.6:c.1241C>T ENSP00000430075.2:p.Pro414Leu
NM_000036.2:c.1241C>T NP_000027.2:p.Pro414Leu
NM_001172626.1:c.1229C>T NP_001166097.1:p.Pro410Leu
NM_000036.3:c.1142C>T MANE Select NP_000027.3:p.Pro381Leu
NM_001172626.2:c.1130C>T NP_001166097.2:p.Pro377Leu