Canonical Allele Identifier: CA409230700

Gene: PCIF1

Linked Data

• gnomAD v4: 20-45947358-G-T
• MyVariant Identifiers: chr20:g.44575997G>T (hg19) ; chr20:g.45947358G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947358G>T , CM000682.2:g.45947358G>T	GRCh38
NC_000020.10:g.44575997G>T , CM000682.1:g.44575997G>T	GRCh37
NC_000020.9:g.44009404G>T	NCBI36
NG_029772.1:g.29837C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1803G>T MANE Select	ENSP00000361486.3:p.Gln601His
ENST00000372409.7:c.1803G>T	ENSP00000361486.3:p.Gln601His
ENST00000479348.2:c.659G>T
NM_022104.3:c.1803G>T	NP_071387.1:p.Gln601His
XM_011528980.1:c.1803G>T	XP_011527282.1:p.Gln601His
XM_011528981.1:c.1803G>T	XP_011527283.1:p.Gln601His
XM_011528982.1:c.759G>T	XP_011527284.1:p.Gln253His
XM_011528980.3:c.1803G>T	XP_011527282.1:p.Gln601His
XM_011528981.3:c.1803G>T	XP_011527283.1:p.Gln601His
XM_017028013.2:c.1803G>T	XP_016883502.1:p.Gln601His
XM_017028014.2:c.759G>T	XP_016883503.1:p.Gln253His
NM_022104.4:c.1803G>T MANE Select	NP_071387.1:p.Gln601His