Canonical Allele Identifier: CA2366448020
Gene: PCIF1 HGNC NCBI

Linked Data

dbSNP Id: rs1600512504
gnomAD v4: 20-45947924-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947924G>A , CM000682.2:g.45947924G>A GRCh38
NC_000020.10:g.44576563G>A , CM000682.1:g.44576563G>A GRCh37
NC_000020.9:g.44009970G>A NCBI36
NG_029772.1:g.29271C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372409.8:c.*169G>A MANE Select ENSP00000361486.3:n.*169G>A
ENST00000372409.7:c.*169G>A ENSP00000361486.3:n.*169G>A
ENST00000479348.2:c.1225G>A
NM_022104.3:c.*169G>A NP_071387.1:n.*169G>A
XM_011528980.1:c.*169G>A XP_011527282.1:n.*169G>A
XM_011528981.1:c.*169G>A XP_011527283.1:n.*169G>A
XM_011528982.1:c.*169G>A XP_011527284.1:n.*169G>A
XM_011528980.3:c.*169G>A XP_011527282.1:n.*169G>A
XM_011528981.3:c.*169G>A XP_011527283.1:n.*169G>A
XM_017028013.2:c.*169G>A XP_016883502.1:n.*169G>A
XM_017028014.2:c.*169G>A XP_016883503.1:n.*169G>A
NM_022104.4:c.*169G>A MANE Select NP_071387.1:n.*169G>A
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