Canonical Allele Identifier: CA510753754
Gene: PCIF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.44576319A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947680A>C , CM000682.2:g.45947680A>C GRCh38
NC_000020.10:g.44576319A>C , CM000682.1:g.44576319A>C GRCh37
NC_000020.9:g.44009726A>C NCBI36
NG_029772.1:g.29515T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372409.8:c.2040A>C MANE Select ENSP00000361486.3:p.Ser680=
ENST00000372409.7:c.2040A>C ENSP00000361486.3:p.Ser680=
ENST00000479348.2:c.981A>C
NM_022104.3:c.2040A>C NP_071387.1:p.Ser680=
XM_011528980.1:c.2040A>C XP_011527282.1:p.Ser680=
XM_011528981.1:c.2040A>C XP_011527283.1:p.Ser680=
XM_011528982.1:c.996A>C XP_011527284.1:p.Ser332=
XM_011528980.3:c.2040A>C XP_011527282.1:p.Ser680=
XM_011528981.3:c.2040A>C XP_011527283.1:p.Ser680=
XM_017028013.2:c.2040A>C XP_016883502.1:p.Ser680=
XM_017028014.2:c.996A>C XP_016883503.1:p.Ser332=
NM_022104.4:c.2040A>C MANE Select NP_071387.1:p.Ser680=