Canonical Allele Identifier: CA10395986

Gene: UBA1

Linked Data

• dbSNP Id: rs782459081
• ExAC: X:47065542 G / A
• gnomAD v2: X-47065542-G-A
• gnomAD v3: X-47206143-G-A
• gnomAD v4: X-47206143-G-A
• MyVariant Identifiers: chrX:g.47065542G>A (hg19) ; chrX:g.47206143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206143G>A , CM000685.2:g.47206143G>A	GRCh38
NC_000023.10:g.47065542G>A , CM000685.1:g.47065542G>A	GRCh37
NC_000023.9:g.46950486G>A	NCBI36
NG_009161.1:g.20344G>A
NG_021353.1:g.6296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1741+30G>A MANE Select	ENSP00000338413.6:n.1741+30G>A
ENST00000335972.10:c.1741+30G>A	ENSP00000338413.6:n.1741+30G>A
ENST00000377351.8:c.1741+30G>A	ENSP00000366568.4:n.1741+30G>A
ENST00000490869.1:n.500+30G>A
NM_003334.3:c.1741+30G>A	NP_003325.2:n.1741+30G>A
NM_153280.2:c.1741+30G>A	NP_695012.1:n.1741+30G>A
XM_005272649.1:c.1759+30G>A	XP_005272706.1:n.1759+30G>A
XM_005272650.1:c.1741+30G>A	XP_005272707.1:n.1741+30G>A
XM_011543953.1:c.1825+30G>A	XP_011542255.1:n.1825+30G>A
XM_011543954.1:c.1783+30G>A	XP_011542256.1:n.1783+30G>A
XM_011543955.1:c.1759+30G>A	XP_011542257.1:n.1759+30G>A
XM_011543956.1:c.1741+30G>A	XP_011542258.1:n.1741+30G>A
XR_949047.1:n.216-793C>T
XM_011543954.2:c.1783+30G>A	XP_011542256.1:n.1783+30G>A
XM_017029777.1:c.1894+30G>A	XP_016885266.1:n.1894+30G>A
XM_017029778.2:c.1825+30G>A	XP_016885267.1:n.1825+30G>A
XM_017029779.2:c.1759+30G>A	XP_016885268.1:n.1759+30G>A
XM_017029780.1:c.1741+30G>A	XP_016885269.1:n.1741+30G>A
XM_017029781.1:c.1741+30G>A	XP_016885270.1:n.1741+30G>A
XR_949047.3:n.284-793C>T
NM_003334.4:c.1741+30G>A MANE Select	NP_003325.2:n.1741+30G>A
NM_153280.3:c.1741+30G>A	NP_695012.1:n.1741+30G>A