Canonical Allele Identifier: CA2653107673
Gene: PCIF1 HGNC NCBI

Linked Data

gnomAD v4: 20-45947818-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947818T>C , CM000682.2:g.45947818T>C GRCh38
NC_000020.10:g.44576457T>C , CM000682.1:g.44576457T>C GRCh37
NC_000020.9:g.44009864T>C NCBI36
NG_029772.1:g.29377A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372409.8:c.*63T>C MANE Select ENSP00000361486.3:n.*63T>C
ENST00000372409.7:c.*63T>C ENSP00000361486.3:n.*63T>C
ENST00000479348.2:c.1119T>C
NM_022104.3:c.*63T>C NP_071387.1:n.*63T>C
XM_011528980.1:c.*63T>C XP_011527282.1:n.*63T>C
XM_011528981.1:c.*63T>C XP_011527283.1:n.*63T>C
XM_011528982.1:c.*63T>C XP_011527284.1:n.*63T>C
XM_011528980.3:c.*63T>C XP_011527282.1:n.*63T>C
XM_011528981.3:c.*63T>C XP_011527283.1:n.*63T>C
XM_017028013.2:c.*63T>C XP_016883502.1:n.*63T>C
XM_017028014.2:c.*63T>C XP_016883503.1:n.*63T>C
NM_022104.4:c.*63T>C MANE Select NP_071387.1:n.*63T>C
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