Canonical Allele Identifier: CA2211961376
Gene: PDILT HGNC NCBI

Linked Data

dbSNP Id: rs1966574759

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20389052T>C , CM000678.2:g.20389052T>C GRCh38
NC_000016.9:g.20400374T>C , CM000678.1:g.20400374T>C GRCh37
NC_000016.8:g.20307875T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302451.9:c.203-4201A>G MANE Select ENSP00000305465.4:n.203-4201A>G
ENST00000302451.8:c.203-4201A>G ENSP00000305465.4:n.203-4201A>G
ENST00000575561.1:c.203-143A>G ENSP00000459161.1:n.203-143A>G
NM_174924.1:c.203-4201A>G NP_777584.1:n.203-4201A>G
XM_006721024.1:c.203-4201A>G XP_006721087.1:n.203-4201A>G
XM_011545764.1:c.203-4201A>G XP_011544066.1:n.203-4201A>G
XM_011545765.1:c.203-4201A>G XP_011544067.1:n.203-4201A>G
XR_950754.1:n.457-4201A>G
NM_174924.2:c.203-4201A>G MANE Select NP_777584.1:n.203-4201A>G