Canonical Allele Identifier: CA10395756

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47201603A>T , CM000685.2:g.47201603A>T	GRCh38
NC_000023.10:g.47061002A>T , CM000685.1:g.47061002A>T	GRCh37
NC_000023.9:g.46945946A>T	NCBI36
NG_009161.1:g.15804A>T
NG_021353.1:g.1756A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003334.4:c.804A>T MANE Select	NP_003325.2:p.Lys268Asn
ENST00000335972.11:c.804A>T MANE Select	ENSP00000338413.6:p.Lys268Asn
NM_003334.3:c.804A>T	NP_003325.2:p.Lys268Asn
NM_153280.2:c.804A>T	NP_695012.1:p.Lys268Asn
NM_153280.3:c.804A>T	NP_695012.1:p.Lys268Asn
ENST00000335972.10:c.804A>T	ENSP00000338413.6:p.Lys268Asn
ENST00000377351.8:c.804A>T	ENSP00000366568.4:p.Lys268Asn
ENST00000412206.5:c.804A>T	ENSP00000415033.1:p.Lys268Asn
ENST00000442035.5:c.846A>T	ENSP00000389583.1:p.Lys282Asn
XM_005272649.1:c.822A>T	XP_005272706.1:p.Lys274Asn
XM_005272650.1:c.804A>T	XP_005272707.1:p.Lys268Asn
XM_011543953.1:c.888A>T	XP_011542255.1:p.Lys296Asn
XM_011543954.1:c.846A>T	XP_011542256.1:p.Lys282Asn
XM_011543954.2:c.846A>T	XP_011542256.1:p.Lys282Asn
XM_011543955.1:c.822A>T	XP_011542257.1:p.Lys274Asn
XM_011543956.1:c.804A>T	XP_011542258.1:p.Lys268Asn
XM_017029777.1:c.957A>T	XP_016885266.1:p.Lys319Asn
XM_017029778.2:c.888A>T	XP_016885267.1:p.Lys296Asn
XM_017029779.2:c.822A>T	XP_016885268.1:p.Lys274Asn
XM_017029780.1:c.804A>T	XP_016885269.1:p.Lys268Asn
XM_017029781.1:c.804A>T	XP_016885270.1:p.Lys268Asn