Canonical Allele Identifier: CA321185

Gene: PUS1

Linked Data

• ClinVar Variation Id: 215045
• ClinVar RCV Id: RCV000196767
• dbSNP Id: rs863224175
• gnomAD v4: 12-131941475-A-G
• MyVariant Identifiers: chr12:g.132426020A>G (hg19) ; chr12:g.131941475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941475A>G , CM000674.2:g.131941475A>G	GRCh38
NC_000012.11:g.132426020A>G , CM000674.1:g.132426020A>G	GRCh37
NC_000012.10:g.130991973A>G	NCBI36
NG_013039.1:g.17276A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.728A>G MANE Select	ENSP00000365837.3:p.His243Arg
ENST00000322060.9:c.644A>G	ENSP00000324726.5:p.His215Arg
ENST00000376649.7:c.728A>G	ENSP00000365837.3:p.His243Arg
ENST00000443358.6:c.644A>G	ENSP00000392451.2:p.His215Arg
ENST00000535067.5:c.358-2064A>G	ENSP00000443969.1:n.358-2064A>G
ENST00000542167.2:c.569A>G	ENSP00000438948.1:p.His190Arg
ENST00000543754.1:n.549A>G
NM_001002019.2:c.644A>G	NP_001002019.1:p.His215Arg
NM_001002020.2:c.644A>G	NP_001002020.1:p.His215Arg
NM_025215.5:c.728A>G	NP_079491.2:p.His243Arg
XM_011538768.1:c.329A>G	XP_011537070.1:p.His110Arg
XM_011538768.3:c.329A>G	XP_011537070.1:p.His110Arg
XR_001748872.1:n.1183A>G
NM_001002019.3:c.644A>G	NP_001002019.1:p.His215Arg
NM_001002020.3:c.644A>G	NP_001002020.1:p.His215Arg
NM_025215.6:c.728A>G MANE Select	NP_079491.2:p.His243Arg