Canonical Allele Identifier: CA636176173

Gene: PCIF1

Linked Data

• dbSNP Id: rs1222546238
• gnomAD v2: 20-44576409-A-G
• MyVariant Identifiers: chr20:g.44576409A>G (hg19) ; chr20:g.45947770A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947770A>G , CM000682.2:g.45947770A>G	GRCh38
NC_000020.10:g.44576409A>G , CM000682.1:g.44576409A>G	GRCh37
NC_000020.9:g.44009816A>G	NCBI36
NG_029772.1:g.29425T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372409.8:c.*15A>G MANE Select	ENSP00000361486.3:n.*15A>G
ENST00000372409.7:c.*15A>G	ENSP00000361486.3:n.*15A>G
ENST00000479348.2:c.1071A>G
NM_022104.3:c.*15A>G	NP_071387.1:n.*15A>G
XM_011528980.1:c.*15A>G	XP_011527282.1:n.*15A>G
XM_011528981.1:c.*15A>G	XP_011527283.1:n.*15A>G
XM_011528982.1:c.*15A>G	XP_011527284.1:n.*15A>G
XM_011528980.3:c.*15A>G	XP_011527282.1:n.*15A>G
XM_011528981.3:c.*15A>G	XP_011527283.1:n.*15A>G
XM_017028013.2:c.*15A>G	XP_016883502.1:n.*15A>G
XM_017028014.2:c.*15A>G	XP_016883503.1:n.*15A>G
NM_022104.4:c.*15A>G MANE Select	NP_071387.1:n.*15A>G