Canonical Allele Identifier: CA2211965023
Gene: PDILT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20396998A= , CM000678.2:g.20396998A= GRCh38
NC_000016.9:g.20408320A= , CM000678.1:g.20408320A= GRCh37
NC_000016.8:g.20315821A= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000302451.9:c.202+2101T= MANE Select ENSP00000305465.4:n.202+2101T=
ENST00000302451.8:c.202+2101T= ENSP00000305465.4:n.202+2101T=
ENST00000575561.1:c.202+2101T= ENSP00000459161.1:n.202+2101T=
NM_174924.1:c.202+2101T= NP_777584.1:n.202+2101T=
XM_006721024.1:c.202+2101T= XP_006721087.1:n.202+2101T=
XM_011545764.1:c.202+2101T= XP_011544066.1:n.202+2101T=
XM_011545765.1:c.202+2101T= XP_011544067.1:n.202+2101T=
XR_950754.1:n.456+2101T=
NM_174924.2:c.202+2101T= MANE Select NP_777584.1:n.202+2101T=