Canonical Allele Identifier: CA510753732
Gene: PCIF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.44576307T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947668T>A , CM000682.2:g.45947668T>A GRCh38
NC_000020.10:g.44576307T>A , CM000682.1:g.44576307T>A GRCh37
NC_000020.9:g.44009714T>A NCBI36
NG_029772.1:g.29527A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372409.8:c.2028T>A MANE Select ENSP00000361486.3:p.Ser676=
ENST00000372409.7:c.2028T>A ENSP00000361486.3:p.Ser676=
ENST00000479348.2:c.969T>A
NM_022104.3:c.2028T>A NP_071387.1:p.Ser676=
XM_011528980.1:c.2028T>A XP_011527282.1:p.Ser676=
XM_011528981.1:c.2028T>A XP_011527283.1:p.Ser676=
XM_011528982.1:c.984T>A XP_011527284.1:p.Ser328=
XM_011528980.3:c.2028T>A XP_011527282.1:p.Ser676=
XM_011528981.3:c.2028T>A XP_011527283.1:p.Ser676=
XM_017028013.2:c.2028T>A XP_016883502.1:p.Ser676=
XM_017028014.2:c.984T>A XP_016883503.1:p.Ser328=
NM_022104.4:c.2028T>A MANE Select NP_071387.1:p.Ser676=