Canonical Allele Identifier: CA174656574

Gene: PNOC

Linked Data

• dbSNP Id: rs545770328
• gnomAD v2: 8-28181820-T-C
• gnomAD v3: 8-28324303-T-C
• gnomAD v4: 8-28324303-T-C
• MyVariant Identifiers: chr8:g.28181820T>C (hg19) ; chr8:g.28324303T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28324303T>C , CM000670.2:g.28324303T>C	GRCh38
NC_000008.10:g.28181820T>C , CM000670.1:g.28181820T>C	GRCh37
NC_000008.9:g.28237739T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301908.8:c.-23-4832T>C MANE Select	ENSP00000301908.3:n.-23-4832T>C
ENST00000301908.7:c.-23-4832T>C	ENSP00000301908.3:n.-23-4832T>C
ENST00000518479.5:c.-23-4832T>C	ENSP00000428059.1:n.-23-4832T>C
NM_006228.4:c.-23-4832T>C	NP_006219.1:n.-23-4832T>C
XM_005273532.1:c.-23-4832T>C	XP_005273589.1:n.-23-4832T>C
XM_011544559.1:c.-23-4832T>C	XP_011542861.1:n.-23-4832T>C
XM_005273532.2:c.-23-4832T>C	XP_005273589.1:n.-23-4832T>C
XM_011544559.2:c.-23-4832T>C	XP_011542861.1:n.-23-4832T>C
NM_006228.5:c.-23-4832T>C MANE Select	NP_006219.1:n.-23-4832T>C