Canonical Allele Identifier: CA279285233

Gene: PDILT

Linked Data

• dbSNP Id: rs899889110
• gnomAD v3: 16-20397122-T-C
• gnomAD v4: 16-20397122-T-C
• MyVariant Identifiers: chr16:g.20408444T>C (hg19) ; chr16:g.20397122T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20397122T>C , CM000678.2:g.20397122T>C	GRCh38
NC_000016.9:g.20408444T>C , CM000678.1:g.20408444T>C	GRCh37
NC_000016.8:g.20315945T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000302451.9:c.202+1977A>G MANE Select	ENSP00000305465.4:n.202+1977A>G
ENST00000302451.8:c.202+1977A>G	ENSP00000305465.4:n.202+1977A>G
ENST00000575561.1:c.202+1977A>G	ENSP00000459161.1:n.202+1977A>G
NM_174924.1:c.202+1977A>G	NP_777584.1:n.202+1977A>G
XM_006721024.1:c.202+1977A>G	XP_006721087.1:n.202+1977A>G
XM_011545764.1:c.202+1977A>G	XP_011544066.1:n.202+1977A>G
XM_011545765.1:c.202+1977A>G	XP_011544067.1:n.202+1977A>G
XR_950754.1:n.456+1977A>G
NM_174924.2:c.202+1977A>G MANE Select	NP_777584.1:n.202+1977A>G