Canonical Allele Identifier: CA478705064
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14659970G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507036G>C , CM000674.2:g.14507036G>C GRCh38
NC_000012.11:g.14659970G>C , CM000674.1:g.14659970G>C GRCh37
NC_000012.10:g.14551237G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1269C>G MANE Select ENSP00000240617.5:p.Gly423=
ENST00000240617.9:c.1269C>G ENSP00000240617.5:p.Gly423=
NM_024829.5:c.1269C>G NP_079105.4:p.Gly423=
NM_024829.6:c.1269C>G MANE Select NP_079105.4:p.Gly423=