Canonical Allele Identifier: CA412786571

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47198918A>T , CM000685.2:g.47198918A>T	GRCh38
NC_000023.10:g.47058317A>T , CM000685.1:g.47058317A>T	GRCh37
NC_000023.9:g.46943261A>T	NCBI36
NG_009161.1:g.13119A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003334.4:c.116A>T MANE Select	NP_003325.2:p.Asn39Ile
ENST00000335972.11:c.116A>T MANE Select	ENSP00000338413.6:p.Asn39Ile
NM_003334.3:c.116A>T	NP_003325.2:p.Asn39Ile
NM_153280.2:c.116A>T	NP_695012.1:p.Asn39Ile
NM_153280.3:c.116A>T	NP_695012.1:p.Asn39Ile
ENST00000335972.10:c.116A>T	ENSP00000338413.6:p.Asn39Ile
ENST00000377351.8:c.116A>T	ENSP00000366568.4:p.Asn39Ile
ENST00000412206.5:c.116A>T	ENSP00000415033.1:p.Asn39Ile
ENST00000427561.5:c.158A>T	ENSP00000397816.1:p.Asn53Ile
ENST00000442035.5:c.158A>T	ENSP00000389583.1:p.Asn53Ile
ENST00000451702.2:c.269A>T	ENSP00000401101.1:p.Asn90Ile
ENST00000457753.5:c.269A>T	ENSP00000404796.1:p.Asn90Ile
XM_005272649.1:c.134A>T	XP_005272706.1:p.Asn45Ile
XM_005272650.1:c.116A>T	XP_005272707.1:p.Asn39Ile
XM_011543953.1:c.200A>T	XP_011542255.1:p.Asn67Ile
XM_011543954.1:c.158A>T	XP_011542256.1:p.Asn53Ile
XM_011543954.2:c.158A>T	XP_011542256.1:p.Asn53Ile
XM_011543955.1:c.134A>T	XP_011542257.1:p.Asn45Ile
XM_011543956.1:c.116A>T	XP_011542258.1:p.Asn39Ile
XM_017029777.1:c.269A>T	XP_016885266.1:p.Asn90Ile
XM_017029778.2:c.200A>T	XP_016885267.1:p.Asn67Ile
XM_017029779.2:c.134A>T	XP_016885268.1:p.Asn45Ile
XM_017029780.1:c.116A>T	XP_016885269.1:p.Asn39Ile
XM_017029781.1:c.116A>T	XP_016885270.1:p.Asn39Ile