Canonical Allele Identifier: CA9884692
Gene: PCIF1 HGNC NCBI

Linked Data

dbSNP Id: rs547744655

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947738G>A , CM000682.2:g.45947738G>A GRCh38
NC_000020.10:g.44576377G>A , CM000682.1:g.44576377G>A GRCh37
NC_000020.9:g.44009784G>A NCBI36
NG_029772.1:g.29457C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372409.8:c.2098G>A MANE Select ENSP00000361486.3:p.Glu700Lys
ENST00000372409.7:c.2098G>A ENSP00000361486.3:p.Glu700Lys
ENST00000479348.2:c.1039G>A
NM_022104.3:c.2098G>A NP_071387.1:p.Glu700Lys
XM_011528980.1:c.2098G>A XP_011527282.1:p.Glu700Lys
XM_011528981.1:c.2098G>A XP_011527283.1:p.Glu700Lys
XM_011528982.1:c.1054G>A XP_011527284.1:p.Glu352Lys
XM_011528980.3:c.2098G>A XP_011527282.1:p.Glu700Lys
XM_011528981.3:c.2098G>A XP_011527283.1:p.Glu700Lys
XM_017028013.2:c.2098G>A XP_016883502.1:p.Glu700Lys
XM_017028014.2:c.1054G>A XP_016883503.1:p.Glu352Lys
NM_022104.4:c.2098G>A MANE Select NP_071387.1:p.Glu700Lys