Canonical Allele Identifier: CA233190687
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs184368393
gnomAD v2: 12-14660187-A-G
gnomAD v3: 12-14507253-A-G
gnomAD v4: 12-14507253-A-G
MyVariant Identifiers: chr12:g.14660187A>G (hg19) chr12:g.14507253A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507253A>G , CM000674.2:g.14507253A>G GRCh38
NC_000012.11:g.14660187A>G , CM000674.1:g.14660187A>G GRCh37
NC_000012.10:g.14551454A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1187-135T>C MANE Select ENSP00000240617.5:n.1187-135T>C
ENST00000240617.9:c.1187-135T>C ENSP00000240617.5:n.1187-135T>C
NM_024829.5:c.1187-135T>C NP_079105.4:n.1187-135T>C
NM_024829.6:c.1187-135T>C MANE Select NP_079105.4:n.1187-135T>C
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