Canonical Allele Identifier: CA2653107767

Gene: PCIF1

Linked Data

• gnomAD v4: 20-45947949-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947949C>A , CM000682.2:g.45947949C>A	GRCh38
NC_000020.10:g.44576588C>A , CM000682.1:g.44576588C>A	GRCh37
NC_000020.9:g.44009995C>A	NCBI36
NG_029772.1:g.29246G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.*194C>A MANE Select	ENSP00000361486.3:n.*194C>A
ENST00000372409.7:c.*194C>A	ENSP00000361486.3:n.*194C>A
ENST00000479348.2:c.1250C>A
NM_022104.3:c.*194C>A	NP_071387.1:n.*194C>A
XM_011528980.1:c.*194C>A	XP_011527282.1:n.*194C>A
XM_011528981.1:c.*194C>A	XP_011527283.1:n.*194C>A
XM_011528982.1:c.*194C>A	XP_011527284.1:n.*194C>A
XM_011528980.3:c.*194C>A	XP_011527282.1:n.*194C>A
XM_011528981.3:c.*194C>A	XP_011527283.1:n.*194C>A
XM_017028013.2:c.*194C>A	XP_016883502.1:n.*194C>A
XM_017028014.2:c.*194C>A	XP_016883503.1:n.*194C>A
NM_022104.4:c.*194C>A MANE Select	NP_071387.1:n.*194C>A