Canonical Allele Identifier: CA516351332

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47203148T>C , CM000685.2:g.47203148T>C	GRCh38
NC_000023.10:g.47062547T>C , CM000685.1:g.47062547T>C	GRCh37
NC_000023.9:g.46947491T>C	NCBI36
NG_009161.1:g.17349T>C
NG_021353.1:g.3301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1353T>C MANE Select	ENSP00000338413.6:p.Tyr451=
ENST00000335972.10:c.1353T>C	ENSP00000338413.6:p.Tyr451=
ENST00000377351.8:c.1353T>C	ENSP00000366568.4:p.Tyr451=
ENST00000490869.1:n.242T>C
NM_003334.3:c.1353T>C	NP_003325.2:p.Tyr451=
NM_153280.2:c.1353T>C	NP_695012.1:p.Tyr451=
XM_005272649.1:c.1371T>C	XP_005272706.1:p.Tyr457=
XM_005272650.1:c.1353T>C	XP_005272707.1:p.Tyr451=
XM_011543953.1:c.1437T>C	XP_011542255.1:p.Tyr479=
XM_011543954.1:c.1395T>C	XP_011542256.1:p.Tyr465=
XM_011543955.1:c.1371T>C	XP_011542257.1:p.Tyr457=
XM_011543956.1:c.1353T>C	XP_011542258.1:p.Tyr451=
XM_011543954.2:c.1395T>C	XP_011542256.1:p.Tyr465=
XM_017029777.1:c.1506T>C	XP_016885266.1:p.Tyr502=
XM_017029778.2:c.1437T>C	XP_016885267.1:p.Tyr479=
XM_017029779.2:c.1371T>C	XP_016885268.1:p.Tyr457=
XM_017029780.1:c.1353T>C	XP_016885269.1:p.Tyr451=
XM_017029781.1:c.1353T>C	XP_016885270.1:p.Tyr451=
NM_003334.4:c.1353T>C MANE Select	NP_003325.2:p.Tyr451=
NM_153280.3:c.1353T>C	NP_695012.1:p.Tyr451=