Canonical Allele Identifier: CA412802179

Gene: UBA1

Linked Data

• gnomAD v4: X-47206101-A-G
• MyVariant Identifiers: chrX:g.47065500A>G (hg19) ; chrX:g.47206101A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206101A>G , CM000685.2:g.47206101A>G	GRCh38
NC_000023.10:g.47065500A>G , CM000685.1:g.47065500A>G	GRCh37
NC_000023.9:g.46950444A>G	NCBI36
NG_009161.1:g.20302A>G
NG_021353.1:g.6254A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1729A>G MANE Select	ENSP00000338413.6:p.Asn577Asp
ENST00000335972.10:c.1729A>G	ENSP00000338413.6:p.Asn577Asp
ENST00000377351.8:c.1729A>G	ENSP00000366568.4:p.Asn577Asp
ENST00000490869.1:n.488A>G
NM_003334.3:c.1729A>G	NP_003325.2:p.Asn577Asp
NM_153280.2:c.1729A>G	NP_695012.1:p.Asn577Asp
XM_005272649.1:c.1747A>G	XP_005272706.1:p.Asn583Asp
XM_005272650.1:c.1729A>G	XP_005272707.1:p.Asn577Asp
XM_011543953.1:c.1813A>G	XP_011542255.1:p.Asn605Asp
XM_011543954.1:c.1771A>G	XP_011542256.1:p.Asn591Asp
XM_011543955.1:c.1747A>G	XP_011542257.1:p.Asn583Asp
XM_011543956.1:c.1729A>G	XP_011542258.1:p.Asn577Asp
XR_949047.1:n.216-751T>C
XM_011543954.2:c.1771A>G	XP_011542256.1:p.Asn591Asp
XM_017029777.1:c.1882A>G	XP_016885266.1:p.Asn628Asp
XM_017029778.2:c.1813A>G	XP_016885267.1:p.Asn605Asp
XM_017029779.2:c.1747A>G	XP_016885268.1:p.Asn583Asp
XM_017029780.1:c.1729A>G	XP_016885269.1:p.Asn577Asp
XM_017029781.1:c.1729A>G	XP_016885270.1:p.Asn577Asp
XR_949047.3:n.284-751T>C
NM_003334.4:c.1729A>G MANE Select	NP_003325.2:p.Asn577Asp
NM_153280.3:c.1729A>G	NP_695012.1:p.Asn577Asp