Canonical Allele Identifier: CA6462475
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs145592446
ExAC: 12:14659849 G / C
gnomAD v2: 12-14659849-G-C
gnomAD v3: 12-14506915-G-C
gnomAD v4: 12-14506915-G-C
MyVariant Identifiers: chr12:g.14659849G>C (hg19) chr12:g.14506915G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506915G>C , CM000674.2:g.14506915G>C GRCh38
NC_000012.11:g.14659849G>C , CM000674.1:g.14659849G>C GRCh37
NC_000012.10:g.14551116G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1372+18C>G MANE Select ENSP00000240617.5:n.1372+18C>G
ENST00000240617.9:c.1372+18C>G ENSP00000240617.5:n.1372+18C>G
NM_024829.5:c.1372+18C>G NP_079105.4:n.1372+18C>G
NM_024829.6:c.1372+18C>G MANE Select NP_079105.4:n.1372+18C>G
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