Canonical Allele Identifier: CA2806172298

Gene: PDILT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20389454C>T , CM000678.2:g.20389454C>T	GRCh38
NC_000016.9:g.20400776C>T , CM000678.1:g.20400776C>T	GRCh37
NC_000016.8:g.20308277C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302451.9:c.203-4603G>A MANE Select	ENSP00000305465.4:n.203-4603G>A
ENST00000302451.8:c.203-4603G>A	ENSP00000305465.4:n.203-4603G>A
ENST00000575561.1:c.203-545G>A	ENSP00000459161.1:n.203-545G>A
NM_174924.1:c.203-4603G>A	NP_777584.1:n.203-4603G>A
XM_006721024.1:c.203-4603G>A	XP_006721087.1:n.203-4603G>A
XM_011545764.1:c.203-4603G>A	XP_011544066.1:n.203-4603G>A
XM_011545765.1:c.203-4603G>A	XP_011544067.1:n.203-4603G>A
XR_950754.1:n.457-4603G>A
NM_174924.2:c.203-4603G>A MANE Select	NP_777584.1:n.203-4603G>A