Canonical Allele Identifier: CA2211961377

Gene: PDILT

Linked Data

• dbSNP Id: rs1966574759
• gnomAD v4: 16-20389052-T-G

Genomic Alleles

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

Transcript Alleles

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