Canonical Allele Identifier: CA48358629

Gene: PUS10

Linked Data

• dbSNP Id: rs186898434
• gnomAD v2: 2-61224271-A-G
• gnomAD v3: 2-60997136-A-G
• gnomAD v4: 2-60997136-A-G
• MyVariant Identifiers: chr2:g.61224271A>G (hg19) ; chr2:g.60997136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.60997136A>G , CM000664.2:g.60997136A>G	GRCh38
NC_000002.11:g.61224271A>G , CM000664.1:g.61224271A>G	GRCh37
NC_000002.10:g.61077775A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000316752.11:c.468+9421T>C MANE Select	ENSP00000326003.6:n.468+9421T>C
ENST00000316752.10:c.468+9421T>C	ENSP00000326003.6:n.468+9421T>C
ENST00000407787.5:c.468+9421T>C	ENSP00000386074.1:n.468+9421T>C
ENST00000602599.1:n.735+9421T>C
NM_144709.2:c.468+9421T>C	NP_653310.2:n.468+9421T>C
XM_006711952.2:c.468+9421T>C	XP_006712015.1:n.468+9421T>C
XM_011532568.1:c.468+9421T>C	XP_011530870.1:n.468+9421T>C
XM_011532569.1:c.468+9421T>C	XP_011530871.1:n.468+9421T>C
XM_011532570.1:c.468+9421T>C	XP_011530872.1:n.468+9421T>C
XM_011532571.1:c.468+9421T>C	XP_011530873.1:n.468+9421T>C
XM_011532572.1:c.468+9421T>C	XP_011530874.1:n.468+9421T>C
XM_011532573.1:c.468+9421T>C	XP_011530875.1:n.468+9421T>C
XM_011532574.1:c.468+9421T>C	XP_011530876.1:n.468+9421T>C
XM_011532575.1:c.468+9421T>C	XP_011530877.1:n.468+9421T>C
XM_011532576.1:c.468+9421T>C	XP_011530878.1:n.468+9421T>C
XM_011532577.1:c.468+9421T>C	XP_011530879.1:n.468+9421T>C
XM_011532578.1:c.279+9421T>C	XP_011530880.1:n.279+9421T>C
NM_001322123.1:c.468+9421T>C	NP_001309052.1:n.468+9421T>C
NM_001322124.1:c.468+9421T>C	NP_001309053.1:n.468+9421T>C
NM_001322127.1:c.-140+9421T>C	NP_001309056.1:n.-140+9421T>C
NM_144709.3:c.468+9421T>C	NP_653310.2:n.468+9421T>C
XM_011532568.3:c.468+9421T>C	XP_011530870.1:n.468+9421T>C
XM_011532570.2:c.468+9421T>C	XP_011530872.1:n.468+9421T>C
XM_011532571.2:c.468+9421T>C	XP_011530873.1:n.468+9421T>C
XM_011532573.3:c.468+9421T>C	XP_011530875.1:n.468+9421T>C
XM_011532574.3:c.468+9421T>C	XP_011530876.1:n.468+9421T>C
XM_011532576.3:c.468+9421T>C	XP_011530878.1:n.468+9421T>C
XM_011532578.2:c.279+9421T>C	XP_011530880.1:n.279+9421T>C
XM_017003428.2:c.213+9421T>C	XP_016858917.1:n.213+9421T>C
XM_017003429.2:c.213+9421T>C	XP_016858918.1:n.213+9421T>C
XM_024452720.1:c.468+9421T>C	XP_024308488.1:n.468+9421T>C
NM_144709.4:c.468+9421T>C MANE Select	NP_653310.2:n.468+9421T>C