Canonical Allele Identifier: CA383981946
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1200970956
gnomAD v2: 12-14659881-A-C
gnomAD v4: 12-14506947-A-C
MyVariant Identifiers: chr12:g.14659881A>C (hg19) chr12:g.14506947A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506947A>C , CM000674.2:g.14506947A>C GRCh38
NC_000012.11:g.14659881A>C , CM000674.1:g.14659881A>C GRCh37
NC_000012.10:g.14551148A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1358T>G MANE Select ENSP00000240617.5:p.Ile453Ser
ENST00000240617.9:c.1358T>G ENSP00000240617.5:p.Ile453Ser
NM_024829.5:c.1358T>G NP_079105.4:p.Ile453Ser
NM_024829.6:c.1358T>G MANE Select NP_079105.4:p.Ile453Ser
Search 100 bp 5'
Search 100 bp 3'