Canonical Allele Identifier: CA510753582

Gene: PCIF1

Linked Data

• gnomAD v4: 20-45947418-C-T
• MyVariant Identifiers: chr20:g.44576057C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947418C>T , CM000682.2:g.45947418C>T	GRCh38
NC_000020.10:g.44576057C>T , CM000682.1:g.44576057C>T	GRCh37
NC_000020.9:g.44009464C>T	NCBI36
NG_029772.1:g.29777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1863C>T MANE Select	ENSP00000361486.3:p.Gly621=
ENST00000372409.7:c.1863C>T	ENSP00000361486.3:p.Gly621=
ENST00000479348.2:c.719C>T
NM_022104.3:c.1863C>T	NP_071387.1:p.Gly621=
XM_011528980.1:c.1863C>T	XP_011527282.1:p.Gly621=
XM_011528981.1:c.1863C>T	XP_011527283.1:p.Gly621=
XM_011528982.1:c.819C>T	XP_011527284.1:p.Gly273=
XM_011528980.3:c.1863C>T	XP_011527282.1:p.Gly621=
XM_011528981.3:c.1863C>T	XP_011527283.1:p.Gly621=
XM_017028013.2:c.1863C>T	XP_016883502.1:p.Gly621=
XM_017028014.2:c.819C>T	XP_016883503.1:p.Gly273=
NM_022104.4:c.1863C>T MANE Select	NP_071387.1:p.Gly621=