Canonical Allele Identifier: CA233190693
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs781186079
gnomAD v2: 12-14660197-A-G
gnomAD v3: 12-14507263-A-G
gnomAD v4: 12-14507263-A-G
MyVariant Identifiers: chr12:g.14660197A>G (hg19) chr12:g.14507263A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507263A>G , CM000674.2:g.14507263A>G GRCh38
NC_000012.11:g.14660197A>G , CM000674.1:g.14660197A>G GRCh37
NC_000012.10:g.14551464A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000240617.10:c.1187-145T>C MANE Select ENSP00000240617.5:n.1187-145T>C
ENST00000240617.9:c.1187-145T>C ENSP00000240617.5:n.1187-145T>C
NM_024829.5:c.1187-145T>C NP_079105.4:n.1187-145T>C
NM_024829.6:c.1187-145T>C MANE Select NP_079105.4:n.1187-145T>C
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