Canonical Allele Identifier: CA279279795
Gene: PDILT HGNC NCBI

Linked Data

dbSNP Id: rs895802242
gnomAD v3: 16-20389214-C-T
gnomAD v4: 16-20389214-C-T
MyVariant Identifiers: chr16:g.20400536C>T (hg19) chr16:g.20389214C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20389214C>T , CM000678.2:g.20389214C>T GRCh38
NC_000016.9:g.20400536C>T , CM000678.1:g.20400536C>T GRCh37
NC_000016.8:g.20308037C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302451.9:c.203-4363G>A MANE Select ENSP00000305465.4:n.203-4363G>A
ENST00000302451.8:c.203-4363G>A ENSP00000305465.4:n.203-4363G>A
ENST00000575561.1:c.203-305G>A ENSP00000459161.1:n.203-305G>A
NM_174924.1:c.203-4363G>A NP_777584.1:n.203-4363G>A
XM_006721024.1:c.203-4363G>A XP_006721087.1:n.203-4363G>A
XM_011545764.1:c.203-4363G>A XP_011544066.1:n.203-4363G>A
XM_011545765.1:c.203-4363G>A XP_011544067.1:n.203-4363G>A
XR_950754.1:n.457-4363G>A
NM_174924.2:c.203-4363G>A MANE Select NP_777584.1:n.203-4363G>A
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