Canonical Allele Identifier: CA580908105
Gene: PNOC HGNC NCBI

Linked Data

dbSNP Id: rs1213402196
gnomAD v2: 8-28181856-C-A
gnomAD v3: 8-28324339-C-A
gnomAD v4: 8-28324339-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28324339C>A , CM000670.2:g.28324339C>A GRCh38
NC_000008.10:g.28181856C>A , CM000670.1:g.28181856C>A GRCh37
NC_000008.9:g.28237775C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301908.8:c.-23-4796C>A MANE Select ENSP00000301908.3:n.-23-4796C>A
ENST00000301908.7:c.-23-4796C>A ENSP00000301908.3:n.-23-4796C>A
ENST00000518479.5:c.-23-4796C>A ENSP00000428059.1:n.-23-4796C>A
NM_006228.4:c.-23-4796C>A NP_006219.1:n.-23-4796C>A
XM_005273532.1:c.-23-4796C>A XP_005273589.1:n.-23-4796C>A
XM_011544559.1:c.-23-4796C>A XP_011542861.1:n.-23-4796C>A
XM_005273532.2:c.-23-4796C>A XP_005273589.1:n.-23-4796C>A
XM_011544559.2:c.-23-4796C>A XP_011542861.1:n.-23-4796C>A
NM_006228.5:c.-23-4796C>A MANE Select NP_006219.1:n.-23-4796C>A