Canonical Allele Identifier: CA114795

Gene: PUS3 HYLS1

Linked Data

• ClinVar Variation Id: 1143
• ClinVar RCV Id: RCV000001202 ; RCV000454127 ; RCV000802696
• dbSNP Id: rs104894232
• ExAC: 11:125769895 A / G
• gnomAD v2: 11-125769895-A-G
• gnomAD v3: 11-125900000-A-G
• gnomAD v4: 11-125900000-A-G
• MyVariant Identifiers: chr11:g.125769895A>G (hg19) ; chr11:g.125900000A>G (hg38)
• PubMed: PMID:15843405

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.125900000A>G , CM000673.2:g.125900000A>G	GRCh38
NC_000011.9:g.125769895A>G , CM000673.1:g.125769895A>G	GRCh37
NC_000011.8:g.125275105A>G	NCBI36
NG_011842.1:g.21387A>G
NG_033067.1:g.8222T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227474.8:c.-47+3170T>C (PUS3) MANE Select	ENSP00000227474.3:n.-47+3170T>C
ENST00000425380.7:c.632A>G (HYLS1) MANE Select	ENSP00000414884.2:p.Asp211Gly
ENST00000227474.7:c.-47+3170T>C (PUS3)	ENSP00000227474.3:n.-47+3170T>C
ENST00000356438.7:c.632A>G (HYLS1)	ENSP00000348815.3:p.Asp211Gly
ENST00000425380.6:c.632A>G (HYLS1)	ENSP00000414884.2:p.Asp211Gly
ENST00000526028.1:c.632A>G (HYLS1)	ENSP00000436833.1:p.Asp211Gly
ENST00000529801.1:c.-47+679T>C (PUS3)	ENSP00000437077.1:n.-47+679T>C
ENST00000534158.5:c.-47+3170T>C (PUS3)	ENSP00000432272.1:n.-47+3170T>C
ENST00000613398.4:c.-247+3170T>C (PUS3)	ENSP00000481536.1:n.-247+3170T>C
NM_001134793.1:c.632A>G (HYLS1)	NP_001128265.1:p.Asp211Gly
NM_001271985.1:c.-247+3170T>C (PUS3)	NP_001258914.1:n.-247+3170T>C
NM_031307.3:c.-47+3170T>C (PUS3)	NP_112597.3:n.-47+3170T>C
NM_145014.2:c.632A>G (HYLS1)	NP_659451.1:p.Asp211Gly
XM_005271430.2:c.632A>G (HYLS1)	XP_005271487.1:p.Asp211Gly
XM_005271687.2:c.81+3170T>C (PUS3)	XP_005271744.1:n.81+3170T>C
XM_005271688.2:c.-47+3170T>C (PUS3)	XP_005271745.1:n.-47+3170T>C
XM_006718777.2:c.632A>G (HYLS1)	XP_006718840.1:p.Asp211Gly
XM_006718778.2:c.632A>G (HYLS1)	XP_006718841.1:p.Asp211Gly
XM_011542657.1:c.632A>G (HYLS1)	XP_011540959.1:p.Asp211Gly
XM_011542658.1:c.632A>G (HYLS1)	XP_011540960.1:p.Asp211Gly
XM_011542659.1:c.632A>G (HYLS1)	XP_011540961.1:p.Asp211Gly
XM_005271688.4:c.-47+3170T>C (PUS3)	XP_005271745.1:n.-47+3170T>C
XM_006718777.3:c.632A>G (HYLS1)	XP_006718840.1:p.Asp211Gly
XM_011542659.2:c.632A>G (HYLS1)	XP_011540961.1:p.Asp211Gly
XM_017017320.1:c.632A>G (HYLS1)	XP_016872809.1:p.Asp211Gly
XM_017017321.1:c.632A>G (HYLS1)	XP_016872810.1:p.Asp211Gly
XM_024448706.1:c.81+3170T>C (PUS3)	XP_024304474.1:n.81+3170T>C
NM_031307.4:c.-47+3170T>C (PUS3) MANE Select	NP_112597.4:n.-47+3170T>C
NM_001134793.2:c.632A>G (HYLS1) MANE Select	NP_001128265.1:p.Asp211Gly
NM_001377269.1:c.632A>G (HYLS1)	NP_001364198.1:p.Asp211Gly
NM_001377270.1:c.632A>G (HYLS1)	NP_001364199.1:p.Asp211Gly
NM_001271985.2:c.-247+3170T>C (PUS3)	NP_001258914.1:n.-247+3170T>C
NM_145014.3:c.632A>G (HYLS1)	NP_659451.1:p.Asp211Gly