Canonical Allele Identifier: CA532813432

Gene: PUS10

Linked Data

• dbSNP Id: rs1481542224
• gnomAD v2: 2-61186756-G-A
• MyVariant Identifiers: chr2:g.61186756G>A (hg19) ; chr2:g.60959621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.60959621G>A , CM000664.2:g.60959621G>A	GRCh38
NC_000002.11:g.61186756G>A , CM000664.1:g.61186756G>A	GRCh37
NC_000002.10:g.61040260G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316752.11:c.1000+771C>T MANE Select	ENSP00000326003.6:n.1000+771C>T
ENST00000316752.10:c.1000+771C>T	ENSP00000326003.6:n.1000+771C>T
ENST00000407787.5:c.1000+771C>T	ENSP00000386074.1:n.1000+771C>T
ENST00000602599.1:n.3603+771C>T
NM_144709.2:c.1000+771C>T	NP_653310.2:n.1000+771C>T
XM_006711952.2:c.1000+771C>T	XP_006712015.1:n.1000+771C>T
XM_011532568.1:c.1000+771C>T	XP_011530870.1:n.1000+771C>T
XM_011532569.1:c.1000+771C>T	XP_011530871.1:n.1000+771C>T
XM_011532570.1:c.1000+771C>T	XP_011530872.1:n.1000+771C>T
XM_011532571.1:c.1000+771C>T	XP_011530873.1:n.1000+771C>T
XM_011532572.1:c.1000+771C>T	XP_011530874.1:n.1000+771C>T
XM_011532573.1:c.1000+771C>T	XP_011530875.1:n.1000+771C>T
XM_011532574.1:c.1000+771C>T	XP_011530876.1:n.1000+771C>T
XM_011532575.1:c.1000+771C>T	XP_011530877.1:n.1000+771C>T
XM_011532576.1:c.1000+771C>T	XP_011530878.1:n.1000+771C>T
XM_011532577.1:c.1000+771C>T	XP_011530879.1:n.1000+771C>T
XM_011532578.1:c.811+771C>T	XP_011530880.1:n.811+771C>T
NM_001322123.1:c.1000+771C>T	NP_001309052.1:n.1000+771C>T
NM_001322124.1:c.1000+771C>T	NP_001309053.1:n.1000+771C>T
NM_001322127.1:c.331+771C>T	NP_001309056.1:n.331+771C>T
NM_144709.3:c.1000+771C>T	NP_653310.2:n.1000+771C>T
XM_011532568.3:c.1000+771C>T	XP_011530870.1:n.1000+771C>T
XM_011532570.2:c.1000+771C>T	XP_011530872.1:n.1000+771C>T
XM_011532571.2:c.1000+771C>T	XP_011530873.1:n.1000+771C>T
XM_011532573.3:c.1000+771C>T	XP_011530875.1:n.1000+771C>T
XM_011532574.3:c.1000+771C>T	XP_011530876.1:n.1000+771C>T
XM_011532576.3:c.1000+771C>T	XP_011530878.1:n.1000+771C>T
XM_011532578.2:c.811+771C>T	XP_011530880.1:n.811+771C>T
XM_017003428.2:c.745+771C>T	XP_016858917.1:n.745+771C>T
XM_017003429.2:c.745+771C>T	XP_016858918.1:n.745+771C>T
XM_024452720.1:c.1000+771C>T	XP_024308488.1:n.1000+771C>T
NM_144709.4:c.1000+771C>T MANE Select	NP_653310.2:n.1000+771C>T