Canonical Allele Identifier: CA2211961606
Gene: PDILT HGNC NCBI

Linked Data

dbSNP Id: rs1966582598

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20389550C>T , CM000678.2:g.20389550C>T GRCh38
NC_000016.9:g.20400872C>T , CM000678.1:g.20400872C>T GRCh37
NC_000016.8:g.20308373C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302451.9:c.203-4699G>A MANE Select ENSP00000305465.4:n.203-4699G>A
ENST00000302451.8:c.203-4699G>A ENSP00000305465.4:n.203-4699G>A
ENST00000575561.1:c.203-641G>A ENSP00000459161.1:n.203-641G>A
NM_174924.1:c.203-4699G>A NP_777584.1:n.203-4699G>A
XM_006721024.1:c.203-4699G>A XP_006721087.1:n.203-4699G>A
XM_011545764.1:c.203-4699G>A XP_011544066.1:n.203-4699G>A
XM_011545765.1:c.203-4699G>A XP_011544067.1:n.203-4699G>A
XR_950754.1:n.457-4699G>A
NM_174924.2:c.203-4699G>A MANE Select NP_777584.1:n.203-4699G>A