Canonical Allele Identifier: CA412801409

Gene: UBA1

Linked Data

• MyVariant Identifiers: chrX:g.47065408C>A (hg19) ; chrX:g.47206009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206009C>A , CM000685.2:g.47206009C>A	GRCh38
NC_000023.10:g.47065408C>A , CM000685.1:g.47065408C>A	GRCh37
NC_000023.9:g.46950352C>A	NCBI36
NG_009161.1:g.20210C>A
NG_021353.1:g.6162C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1637C>A MANE Select	ENSP00000338413.6:p.Thr546Lys
ENST00000335972.10:c.1637C>A	ENSP00000338413.6:p.Thr546Lys
ENST00000377351.8:c.1637C>A	ENSP00000366568.4:p.Thr546Lys
ENST00000490869.1:n.465-69C>A
NM_003334.3:c.1637C>A	NP_003325.2:p.Thr546Lys
NM_153280.2:c.1637C>A	NP_695012.1:p.Thr546Lys
XM_005272649.1:c.1655C>A	XP_005272706.1:p.Thr552Lys
XM_005272650.1:c.1637C>A	XP_005272707.1:p.Thr546Lys
XM_011543953.1:c.1721C>A	XP_011542255.1:p.Thr574Lys
XM_011543954.1:c.1679C>A	XP_011542256.1:p.Thr560Lys
XM_011543955.1:c.1655C>A	XP_011542257.1:p.Thr552Lys
XM_011543956.1:c.1637C>A	XP_011542258.1:p.Thr546Lys
XR_949047.1:n.216-659G>T
XM_011543954.2:c.1679C>A	XP_011542256.1:p.Thr560Lys
XM_017029777.1:c.1790C>A	XP_016885266.1:p.Thr597Lys
XM_017029778.2:c.1721C>A	XP_016885267.1:p.Thr574Lys
XM_017029779.2:c.1655C>A	XP_016885268.1:p.Thr552Lys
XM_017029780.1:c.1637C>A	XP_016885269.1:p.Thr546Lys
XM_017029781.1:c.1637C>A	XP_016885270.1:p.Thr546Lys
XR_949047.3:n.284-659G>T
NM_003334.4:c.1637C>A MANE Select	NP_003325.2:p.Thr546Lys
NM_153280.3:c.1637C>A	NP_695012.1:p.Thr546Lys