Canonical Allele Identifier: CA1111776246
Gene: PEBP4 HGNC NCBI

Linked Data

dbSNP Id: rs1806021595
gnomAD v3: 8-22786094-T-G
gnomAD v4: 8-22786094-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22786094T>G , CM000670.2:g.22786094T>G GRCh38
NC_000008.10:g.22643607T>G , CM000670.1:g.22643607T>G GRCh37
NC_000008.9:g.22699552T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256404.8:c.357+31543A>C MANE Select ENSP00000256404.6:n.357+31543A>C
ENST00000256404.7:c.357+31543A>C ENSP00000256404.6:n.357+31543A>C
NM_144962.2:c.357+31543A>C NP_659399.2:n.357+31543A>C
XM_011544413.1:c.357+31543A>C XP_011542715.1:n.357+31543A>C
XM_011544414.1:c.357+31543A>C XP_011542716.1:n.357+31543A>C
NM_001363233.1:c.357+31543A>C NP_001350162.1:n.357+31543A>C
NM_144962.3:c.357+31543A>C MANE Select NP_659399.2:n.357+31543A>C
NM_001363233.2:c.357+31543A>C NP_001350162.1:n.357+31543A>C
Search 100 bp 5'
Search 100 bp 3'