Canonical Allele Identifier: CA174656572

Gene: PNOC

Linked Data

• dbSNP Id: rs377701223
• gnomAD v2: 8-28181787-G-A
• gnomAD v3: 8-28324270-G-A
• gnomAD v4: 8-28324270-G-A
• MyVariant Identifiers: chr8:g.28181787G>A (hg19) ; chr8:g.28324270G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28324270G>A , CM000670.2:g.28324270G>A	GRCh38
NC_000008.10:g.28181787G>A , CM000670.1:g.28181787G>A	GRCh37
NC_000008.9:g.28237706G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000301908.8:c.-23-4865G>A MANE Select	ENSP00000301908.3:n.-23-4865G>A
ENST00000301908.7:c.-23-4865G>A	ENSP00000301908.3:n.-23-4865G>A
ENST00000518479.5:c.-23-4865G>A	ENSP00000428059.1:n.-23-4865G>A
NM_006228.4:c.-23-4865G>A	NP_006219.1:n.-23-4865G>A
XM_005273532.1:c.-23-4865G>A	XP_005273589.1:n.-23-4865G>A
XM_011544559.1:c.-23-4865G>A	XP_011542861.1:n.-23-4865G>A
XM_005273532.2:c.-23-4865G>A	XP_005273589.1:n.-23-4865G>A
XM_011544559.2:c.-23-4865G>A	XP_011542861.1:n.-23-4865G>A
NM_006228.5:c.-23-4865G>A MANE Select	NP_006219.1:n.-23-4865G>A