Canonical Allele Identifier: CA6350385

Gene: PUS3 HYLS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.125894120T>A , CM000673.2:g.125894120T>A	GRCh38
NC_000011.9:g.125764015T>A , CM000673.1:g.125764015T>A	GRCh37
NC_000011.8:g.125269225T>A	NCBI36
NG_011842.1:g.15507T>A
NG_033067.1:g.14102A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227474.8:c.1111A>T (PUS3) MANE Select	ENSP00000227474.3:p.Thr371Ser
ENST00000425380.7:c.-26+2648T>A (HYLS1) MANE Select	ENSP00000414884.2:n.-26+2648T>A
ENST00000227474.7:c.1111A>T (PUS3)	ENSP00000227474.3:p.Thr371Ser
ENST00000356438.7:c.-81+2648T>A (HYLS1)	ENSP00000348815.3:n.-81+2648T>A
ENST00000425380.6:c.-26+2648T>A (HYLS1)	ENSP00000414884.2:n.-26+2648T>A
ENST00000526028.1:c.-26+2648T>A (HYLS1)	ENSP00000436833.1:n.-26+2648T>A
ENST00000530811.5:c.1111A>T (PUS3)	ENSP00000432386.1:p.Thr371Ser
ENST00000613398.4:c.487A>T (PUS3)	ENSP00000481536.1:p.Thr163Ser
NM_001134793.1:c.-26+2648T>A (HYLS1)	NP_001128265.1:n.-26+2648T>A
NM_001271985.1:c.487A>T (PUS3)	NP_001258914.1:p.Thr163Ser
NM_031307.3:c.1111A>T (PUS3)	NP_112597.3:p.Thr371Ser
NM_145014.2:c.-81+2648T>A (HYLS1)	NP_659451.1:n.-81+2648T>A
XM_005271430.2:c.-25-5224T>A (HYLS1)	XP_005271487.1:n.-25-5224T>A
XM_005271687.2:c.814A>T (PUS3)	XP_005271744.1:p.Thr272Ser
XM_006718777.2:c.-22-5227T>A (HYLS1)	XP_006718840.1:n.-22-5227T>A
XM_006718778.2:c.-23+2648T>A (HYLS1)	XP_006718841.1:n.-23+2648T>A
XM_011542657.1:c.-26+2648T>A (HYLS1)	XP_011540959.1:n.-26+2648T>A
XM_011542658.1:c.-81+2648T>A (HYLS1)	XP_011540960.1:n.-81+2648T>A
XM_011542659.1:c.-25-5224T>A (HYLS1)	XP_011540961.1:n.-25-5224T>A
XM_005271688.4:c.*134A>T (PUS3)	XP_005271745.1:n.*134A>T
XM_006718777.3:c.-22-5227T>A (HYLS1)	XP_006718840.1:n.-22-5227T>A
XM_011542659.2:c.-25-5224T>A (HYLS1)	XP_011540961.1:n.-25-5224T>A
XM_017017320.1:c.-26+2648T>A (HYLS1)	XP_016872809.1:n.-26+2648T>A
XM_017017321.1:c.-23+2648T>A (HYLS1)	XP_016872810.1:n.-23+2648T>A
XM_024448706.1:c.814A>T (PUS3)	XP_024304474.1:p.Thr272Ser
NM_031307.4:c.1111A>T (PUS3) MANE Select	NP_112597.4:p.Thr371Ser
NM_001134793.2:c.-26+2648T>A (HYLS1) MANE Select	NP_001128265.1:n.-26+2648T>A
NM_001377269.1:c.-25-5224T>A (HYLS1)	NP_001364198.1:n.-25-5224T>A
NM_001377270.1:c.-22-5227T>A (HYLS1)	NP_001364199.1:n.-22-5227T>A
NM_001271985.2:c.487A>T (PUS3)	NP_001258914.1:p.Thr163Ser
NM_145014.3:c.-81+2648T>A (HYLS1)	NP_659451.1:n.-81+2648T>A