Canonical Allele Identifier: CA2211961522
Gene: PDILT HGNC NCBI

Linked Data

dbSNP Id: rs1966579967

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20389375A>G , CM000678.2:g.20389375A>G GRCh38
NC_000016.9:g.20400697A>G , CM000678.1:g.20400697A>G GRCh37
NC_000016.8:g.20308198A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302451.9:c.203-4524T>C MANE Select ENSP00000305465.4:n.203-4524T>C
ENST00000302451.8:c.203-4524T>C ENSP00000305465.4:n.203-4524T>C
ENST00000575561.1:c.203-466T>C ENSP00000459161.1:n.203-466T>C
NM_174924.1:c.203-4524T>C NP_777584.1:n.203-4524T>C
XM_006721024.1:c.203-4524T>C XP_006721087.1:n.203-4524T>C
XM_011545764.1:c.203-4524T>C XP_011544066.1:n.203-4524T>C
XM_011545765.1:c.203-4524T>C XP_011544067.1:n.203-4524T>C
XR_950754.1:n.457-4524T>C
NM_174924.2:c.203-4524T>C MANE Select NP_777584.1:n.203-4524T>C