Canonical Allele Identifier: CA383982158
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14659979C>A (hg19) chr12:g.14507045C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507045C>A , CM000674.2:g.14507045C>A GRCh38
NC_000012.11:g.14659979C>A , CM000674.1:g.14659979C>A GRCh37
NC_000012.10:g.14551246C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1260G>T MANE Select ENSP00000240617.5:p.Gln420His
ENST00000240617.9:c.1260G>T ENSP00000240617.5:p.Gln420His
NM_024829.5:c.1260G>T NP_079105.4:p.Gln420His
NM_024829.6:c.1260G>T MANE Select NP_079105.4:p.Gln420His
Search 100 bp 5'
Search 100 bp 3'