Canonical Allele Identifier: CA14263316
Gene: PDILT HGNC NCBI

Linked Data

dbSNP Id: rs4494548
gnomAD v2: 16-20371588-G-A
gnomAD v3: 16-20360266-G-A
gnomAD v4: 16-20360266-G-A
MyVariant Identifiers: chr16:g.20371588G>A (hg19) chr16:g.20360266G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20360266G>A , CM000678.2:g.20360266G>A GRCh38
NC_000016.9:g.20371588G>A , CM000678.1:g.20371588G>A GRCh37
NC_000016.8:g.20279089G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000302451.9:c.1506+302C>T MANE Select ENSP00000305465.4:n.1506+302C>T
ENST00000302451.8:c.1506+302C>T ENSP00000305465.4:n.1506+302C>T
NM_174924.1:c.1506+302C>T NP_777584.1:n.1506+302C>T
XM_006721024.1:c.1206+302C>T XP_006721087.1:n.1206+302C>T
XM_011545766.1:c.684+302C>T XP_011544068.1:n.684+302C>T
XR_950754.1:n.1581+302C>T
XM_011545766.3:c.684+302C>T XP_011544068.1:n.684+302C>T
NM_174924.2:c.1506+302C>T MANE Select NP_777584.1:n.1506+302C>T
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