Canonical Allele Identifier: CA279279963

Gene: PDILT

Linked Data

• dbSNP Id: rs534995249
• gnomAD v3: 16-20389464-T-G
• MyVariant Identifiers: chr16:g.20400786T>G (hg19) ; chr16:g.20389464T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20389464T>G , CM000678.2:g.20389464T>G	GRCh38
NC_000016.9:g.20400786T>G , CM000678.1:g.20400786T>G	GRCh37
NC_000016.8:g.20308287T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000302451.9:c.203-4613A>C MANE Select	ENSP00000305465.4:n.203-4613A>C
ENST00000302451.8:c.203-4613A>C	ENSP00000305465.4:n.203-4613A>C
ENST00000575561.1:c.203-555A>C	ENSP00000459161.1:n.203-555A>C
NM_174924.1:c.203-4613A>C	NP_777584.1:n.203-4613A>C
XM_006721024.1:c.203-4613A>C	XP_006721087.1:n.203-4613A>C
XM_011545764.1:c.203-4613A>C	XP_011544066.1:n.203-4613A>C
XM_011545765.1:c.203-4613A>C	XP_011544067.1:n.203-4613A>C
XR_950754.1:n.457-4613A>C
NM_174924.2:c.203-4613A>C MANE Select	NP_777584.1:n.203-4613A>C