Canonical Allele Identifier: CA2806172291
Gene: PDILT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20389239G>T , CM000678.2:g.20389239G>T GRCh38
NC_000016.9:g.20400561G>T , CM000678.1:g.20400561G>T GRCh37
NC_000016.8:g.20308062G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302451.9:c.203-4388C>A MANE Select ENSP00000305465.4:n.203-4388C>A
ENST00000302451.8:c.203-4388C>A ENSP00000305465.4:n.203-4388C>A
ENST00000575561.1:c.203-330C>A ENSP00000459161.1:n.203-330C>A
NM_174924.1:c.203-4388C>A NP_777584.1:n.203-4388C>A
XM_006721024.1:c.203-4388C>A XP_006721087.1:n.203-4388C>A
XM_011545764.1:c.203-4388C>A XP_011544066.1:n.203-4388C>A
XM_011545765.1:c.203-4388C>A XP_011544067.1:n.203-4388C>A
XR_950754.1:n.457-4388C>A
NM_174924.2:c.203-4388C>A MANE Select NP_777584.1:n.203-4388C>A