Canonical Allele Identifier: CA718935110

Gene: PDILT

Linked Data

• dbSNP Id: rs1304213081
• gnomAD v3: 16-20389495-G-A
• gnomAD v4: 16-20389495-G-A
• MyVariant Identifiers: chr16:g.20400817G>A (hg19) ; chr16:g.20389495G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20389495G>A , CM000678.2:g.20389495G>A	GRCh38
NC_000016.9:g.20400817G>A , CM000678.1:g.20400817G>A	GRCh37
NC_000016.8:g.20308318G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302451.9:c.203-4644C>T MANE Select	ENSP00000305465.4:n.203-4644C>T
ENST00000302451.8:c.203-4644C>T	ENSP00000305465.4:n.203-4644C>T
ENST00000575561.1:c.203-586C>T	ENSP00000459161.1:n.203-586C>T
NM_174924.1:c.203-4644C>T	NP_777584.1:n.203-4644C>T
XM_006721024.1:c.203-4644C>T	XP_006721087.1:n.203-4644C>T
XM_011545764.1:c.203-4644C>T	XP_011544066.1:n.203-4644C>T
XM_011545765.1:c.203-4644C>T	XP_011544067.1:n.203-4644C>T
XR_950754.1:n.457-4644C>T
NM_174924.2:c.203-4644C>T MANE Select	NP_777584.1:n.203-4644C>T