Canonical Allele Identifier: CA246187216

Gene: PUS1

Linked Data

• dbSNP Id: rs1019850006
• gnomAD v4: 12-131941485-C-T
• MyVariant Identifiers: chr12:g.132426030C>T (hg19) ; chr12:g.131941485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941485C>T , CM000674.2:g.131941485C>T	GRCh38
NC_000012.11:g.132426030C>T , CM000674.1:g.132426030C>T	GRCh37
NC_000012.10:g.130991983C>T	NCBI36
NG_013039.1:g.17286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.738C>T MANE Select	ENSP00000365837.3:p.His246=
ENST00000322060.9:c.654C>T	ENSP00000324726.5:p.His218=
ENST00000376649.7:c.738C>T	ENSP00000365837.3:p.His246=
ENST00000443358.6:c.654C>T	ENSP00000392451.2:p.His218=
ENST00000535067.5:c.358-2054C>T	ENSP00000443969.1:n.358-2054C>T
ENST00000542167.2:c.579C>T	ENSP00000438948.1:p.His193=
ENST00000543754.1:n.559C>T
NM_001002019.2:c.654C>T	NP_001002019.1:p.His218=
NM_001002020.2:c.654C>T	NP_001002020.1:p.His218=
NM_025215.5:c.738C>T	NP_079491.2:p.His246=
XM_011538768.1:c.339C>T	XP_011537070.1:p.His113=
XM_011538768.3:c.339C>T	XP_011537070.1:p.His113=
XR_001748872.1:n.1193C>T
NM_001002019.3:c.654C>T	NP_001002019.1:p.His218=
NM_001002020.3:c.654C>T	NP_001002020.1:p.His218=
NM_025215.6:c.738C>T MANE Select	NP_079491.2:p.His246=