Canonical Allele Identifier: CA510753640

Gene: PCIF1

Linked Data

• gnomAD v4: 20-45947605-G-C
• MyVariant Identifiers: chr20:g.44576244G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947605G>C , CM000682.2:g.45947605G>C	GRCh38
NC_000020.10:g.44576244G>C , CM000682.1:g.44576244G>C	GRCh37
NC_000020.9:g.44009651G>C	NCBI36
NG_029772.1:g.29590C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1965G>C MANE Select	ENSP00000361486.3:p.Pro655=
ENST00000372409.7:c.1965G>C	ENSP00000361486.3:p.Pro655=
ENST00000479348.2:c.906G>C
NM_022104.3:c.1965G>C	NP_071387.1:p.Pro655=
XM_011528980.1:c.1965G>C	XP_011527282.1:p.Pro655=
XM_011528981.1:c.1965G>C	XP_011527283.1:p.Pro655=
XM_011528982.1:c.921G>C	XP_011527284.1:p.Pro307=
XM_011528980.3:c.1965G>C	XP_011527282.1:p.Pro655=
XM_011528981.3:c.1965G>C	XP_011527283.1:p.Pro655=
XM_017028013.2:c.1965G>C	XP_016883502.1:p.Pro655=
XM_017028014.2:c.921G>C	XP_016883503.1:p.Pro307=
NM_022104.4:c.1965G>C MANE Select	NP_071387.1:p.Pro655=