Canonical Allele Identifier: CA477698038

Gene: PUS3 HYLS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.125894235G>C , CM000673.2:g.125894235G>C	GRCh38
NC_000011.9:g.125764130G>C , CM000673.1:g.125764130G>C	GRCh37
NC_000011.8:g.125269340G>C	NCBI36
NG_011842.1:g.15622G>C
NG_033067.1:g.13987C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227474.8:c.996C>G (PUS3) MANE Select	ENSP00000227474.3:p.Val332=
ENST00000425380.7:c.-26+2763G>C (HYLS1) MANE Select	ENSP00000414884.2:n.-26+2763G>C
ENST00000227474.7:c.996C>G (PUS3)	ENSP00000227474.3:p.Val332=
ENST00000356438.7:c.-81+2763G>C (HYLS1)	ENSP00000348815.3:n.-81+2763G>C
ENST00000425380.6:c.-26+2763G>C (HYLS1)	ENSP00000414884.2:n.-26+2763G>C
ENST00000526028.1:c.-26+2763G>C (HYLS1)	ENSP00000436833.1:n.-26+2763G>C
ENST00000530811.5:c.996C>G (PUS3)	ENSP00000432386.1:p.Val332=
ENST00000613398.4:c.372C>G (PUS3)	ENSP00000481536.1:p.Val124=
NM_001134793.1:c.-26+2763G>C (HYLS1)	NP_001128265.1:n.-26+2763G>C
NM_001271985.1:c.372C>G (PUS3)	NP_001258914.1:p.Val124=
NM_031307.3:c.996C>G (PUS3)	NP_112597.3:p.Val332=
NM_145014.2:c.-81+2763G>C (HYLS1)	NP_659451.1:n.-81+2763G>C
XM_005271430.2:c.-25-5109G>C (HYLS1)	XP_005271487.1:n.-25-5109G>C
XM_005271687.2:c.699C>G (PUS3)	XP_005271744.1:p.Val233=
XM_005271688.2:c.*19C>G (PUS3)	XP_005271745.1:n.*19C>G
XM_006718777.2:c.-22-5112G>C (HYLS1)	XP_006718840.1:n.-22-5112G>C
XM_006718778.2:c.-23+2763G>C (HYLS1)	XP_006718841.1:n.-23+2763G>C
XM_011542657.1:c.-26+2763G>C (HYLS1)	XP_011540959.1:n.-26+2763G>C
XM_011542658.1:c.-81+2763G>C (HYLS1)	XP_011540960.1:n.-81+2763G>C
XM_011542659.1:c.-25-5109G>C (HYLS1)	XP_011540961.1:n.-25-5109G>C
XM_005271688.4:c.*19C>G (PUS3)	XP_005271745.1:n.*19C>G
XM_006718777.3:c.-22-5112G>C (HYLS1)	XP_006718840.1:n.-22-5112G>C
XM_011542659.2:c.-25-5109G>C (HYLS1)	XP_011540961.1:n.-25-5109G>C
XM_017017320.1:c.-26+2763G>C (HYLS1)	XP_016872809.1:n.-26+2763G>C
XM_017017321.1:c.-23+2763G>C (HYLS1)	XP_016872810.1:n.-23+2763G>C
XM_024448706.1:c.699C>G (PUS3)	XP_024304474.1:p.Val233=
NM_031307.4:c.996C>G (PUS3) MANE Select	NP_112597.4:p.Val332=
NM_001134793.2:c.-26+2763G>C (HYLS1) MANE Select	NP_001128265.1:n.-26+2763G>C
NM_001377269.1:c.-25-5109G>C (HYLS1)	NP_001364198.1:n.-25-5109G>C
NM_001377270.1:c.-22-5112G>C (HYLS1)	NP_001364199.1:n.-22-5112G>C
NM_001271985.2:c.372C>G (PUS3)	NP_001258914.1:p.Val124=
NM_145014.3:c.-81+2763G>C (HYLS1)	NP_659451.1:n.-81+2763G>C