Canonical Allele Identifier: CA1747535
Gene: PTCD3 HGNC NCBI

Linked Data

dbSNP Id: rs2241437
gnomAD v2: 2-86360573-T-G
gnomAD v3: 2-86133450-T-G
gnomAD v4: 2-86133450-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86133450T>G , CM000664.2:g.86133450T>G GRCh38
NC_000002.11:g.86360573T>G , CM000664.1:g.86360573T>G GRCh37
NC_000002.10:g.86214084T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000254630.12:c.1543+14T>G MANE Select ENSP00000254630.7:n.1543+14T>G
ENST00000254630.11:c.1543+14T>G ENSP00000254630.7:n.1543+14T>G
ENST00000467273.5:n.524+14T>G
ENST00000469585.5:n.439+14T>G
ENST00000472044.1:n.168+14T>G
ENST00000477520.1:n.114+14T>G
ENST00000487043.5:n.458+14T>G
ENST00000493430.5:n.583+14T>G
ENST00000494323.5:n.356+14T>G
NM_017952.5:c.1543+14T>G NP_060422.4:n.1543+14T>G
NM_017952.6:c.1543+14T>G MANE Select NP_060422.4:n.1543+14T>G