Canonical Allele Identifier: CA510753446
Gene: PCIF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.44576325C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947686C>T , CM000682.2:g.45947686C>T GRCh38
NC_000020.10:g.44576325C>T , CM000682.1:g.44576325C>T GRCh37
NC_000020.9:g.44009732C>T NCBI36
NG_029772.1:g.29509G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372409.8:c.2046C>T MANE Select ENSP00000361486.3:p.Ser682=
ENST00000372409.7:c.2046C>T ENSP00000361486.3:p.Ser682=
ENST00000479348.2:c.987C>T
NM_022104.3:c.2046C>T NP_071387.1:p.Ser682=
XM_011528980.1:c.2046C>T XP_011527282.1:p.Ser682=
XM_011528981.1:c.2046C>T XP_011527283.1:p.Ser682=
XM_011528982.1:c.1002C>T XP_011527284.1:p.Ser334=
XM_011528980.3:c.2046C>T XP_011527282.1:p.Ser682=
XM_011528981.3:c.2046C>T XP_011527283.1:p.Ser682=
XM_017028013.2:c.2046C>T XP_016883502.1:p.Ser682=
XM_017028014.2:c.1002C>T XP_016883503.1:p.Ser334=
NM_022104.4:c.2046C>T MANE Select NP_071387.1:p.Ser682=