Canonical Allele Identifier: CA323709
Gene: PUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215043
ClinVar RCV Id: RCV000199180
dbSNP Id: rs372753711
ExAC: 12:132423733 G / A
gnomAD v2: 12-132423733-G-A
gnomAD v3: 12-131939188-G-A
gnomAD v4: 12-131939188-G-A
MyVariant Identifiers: chr12:g.132423733G>A (hg19) chr12:g.131939188G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131939188G>A , CM000674.2:g.131939188G>A GRCh38
NC_000012.11:g.132423733G>A , CM000674.1:g.132423733G>A GRCh37
NC_000012.10:g.130989686G>A NCBI36
NG_013039.1:g.14989G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376649.8:c.457G>A MANE Select ENSP00000365837.3:p.Gly153Ser
ENST00000322060.9:c.373G>A ENSP00000324726.5:p.Gly125Ser
ENST00000376649.7:c.457G>A ENSP00000365837.3:p.Gly153Ser
ENST00000443358.6:c.373G>A ENSP00000392451.2:p.Gly125Ser
ENST00000535067.5:c.358-4351G>A ENSP00000443969.1:n.358-4351G>A
ENST00000537484.1:c.470-2104G>A ENSP00000440179.1:n.470-2104G>A
ENST00000538037.5:c.373G>A ENSP00000440326.2:p.Gly125Ser
ENST00000542167.2:c.298G>A ENSP00000438948.1:p.Gly100Ser
NM_001002019.2:c.373G>A NP_001002019.1:p.Gly125Ser
NM_001002020.2:c.373G>A NP_001002020.1:p.Gly125Ser
NM_025215.5:c.457G>A NP_079491.2:p.Gly153Ser
XM_011538768.1:c.58G>A XP_011537070.1:p.Gly20Ser
XM_011538768.3:c.58G>A XP_011537070.1:p.Gly20Ser
XR_001748872.1:n.912G>A
NM_001002019.3:c.373G>A NP_001002019.1:p.Gly125Ser
NM_001002020.3:c.373G>A NP_001002020.1:p.Gly125Ser
NM_025215.6:c.457G>A MANE Select NP_079491.2:p.Gly153Ser
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