Canonical Allele Identifier: CA2617768402
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14507267-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507267T>G , CM000674.2:g.14507267T>G GRCh38
NC_000012.11:g.14660201T>G , CM000674.1:g.14660201T>G GRCh37
NC_000012.10:g.14551468T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000240617.10:c.1187-149A>C MANE Select ENSP00000240617.5:n.1187-149A>C
ENST00000240617.9:c.1187-149A>C ENSP00000240617.5:n.1187-149A>C
NM_024829.5:c.1187-149A>C NP_079105.4:n.1187-149A>C
NM_024829.6:c.1187-149A>C MANE Select NP_079105.4:n.1187-149A>C
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