Canonical Allele Identifier: CA2632120773
Gene: PDILT HGNC NCBI

Linked Data

gnomAD v4: 16-20389031-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20389031C>A , CM000678.2:g.20389031C>A GRCh38
NC_000016.9:g.20400353C>A , CM000678.1:g.20400353C>A GRCh37
NC_000016.8:g.20307854C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302451.9:c.203-4180G>T MANE Select ENSP00000305465.4:n.203-4180G>T
ENST00000302451.8:c.203-4180G>T ENSP00000305465.4:n.203-4180G>T
ENST00000575561.1:c.203-122G>T ENSP00000459161.1:n.203-122G>T
NM_174924.1:c.203-4180G>T NP_777584.1:n.203-4180G>T
XM_006721024.1:c.203-4180G>T XP_006721087.1:n.203-4180G>T
XM_011545764.1:c.203-4180G>T XP_011544066.1:n.203-4180G>T
XM_011545765.1:c.203-4180G>T XP_011544067.1:n.203-4180G>T
XR_950754.1:n.457-4180G>T
NM_174924.2:c.203-4180G>T MANE Select NP_777584.1:n.203-4180G>T
Search 100 bp 5'
Search 100 bp 3'