Canonical Allele Identifier: CA383982226
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs2136903066
gnomAD v4: 12-14507076-T-C
MyVariant Identifiers: chr12:g.14660010T>C (hg19) chr12:g.14507076T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507076T>C , CM000674.2:g.14507076T>C GRCh38
NC_000012.11:g.14660010T>C , CM000674.1:g.14660010T>C GRCh37
NC_000012.10:g.14551277T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1229A>G MANE Select ENSP00000240617.5:p.Tyr410Cys
ENST00000240617.9:c.1229A>G ENSP00000240617.5:p.Tyr410Cys
NM_024829.5:c.1229A>G NP_079105.4:p.Tyr410Cys
NM_024829.6:c.1229A>G MANE Select NP_079105.4:p.Tyr410Cys
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