Canonical Allele Identifier: CA510753454
Gene: PCIF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.44576328C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947689C>G , CM000682.2:g.45947689C>G GRCh38
NC_000020.10:g.44576328C>G , CM000682.1:g.44576328C>G GRCh37
NC_000020.9:g.44009735C>G NCBI36
NG_029772.1:g.29506G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372409.8:c.2049C>G MANE Select ENSP00000361486.3:p.Ser683=
ENST00000372409.7:c.2049C>G ENSP00000361486.3:p.Ser683=
ENST00000479348.2:c.990C>G
NM_022104.3:c.2049C>G NP_071387.1:p.Ser683=
XM_011528980.1:c.2049C>G XP_011527282.1:p.Ser683=
XM_011528981.1:c.2049C>G XP_011527283.1:p.Ser683=
XM_011528982.1:c.1005C>G XP_011527284.1:p.Ser335=
XM_011528980.3:c.2049C>G XP_011527282.1:p.Ser683=
XM_011528981.3:c.2049C>G XP_011527283.1:p.Ser683=
XM_017028013.2:c.2049C>G XP_016883502.1:p.Ser683=
XM_017028014.2:c.1005C>G XP_016883503.1:p.Ser335=
NM_022104.4:c.2049C>G MANE Select NP_071387.1:p.Ser683=