Canonical Allele Identifier: CA412801378

Gene: UBA1

Linked Data

• gnomAD v4: X-47206005-G-T
• MyVariant Identifiers: chrX:g.47065404G>T (hg19) ; chrX:g.47206005G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206005G>T , CM000685.2:g.47206005G>T	GRCh38
NC_000023.10:g.47065404G>T , CM000685.1:g.47065404G>T	GRCh37
NC_000023.9:g.46950348G>T	NCBI36
NG_009161.1:g.20206G>T
NG_021353.1:g.6158G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1633G>T MANE Select	ENSP00000338413.6:p.Val545Leu
ENST00000335972.10:c.1633G>T	ENSP00000338413.6:p.Val545Leu
ENST00000377351.8:c.1633G>T	ENSP00000366568.4:p.Val545Leu
ENST00000490869.1:n.465-73G>T
NM_003334.3:c.1633G>T	NP_003325.2:p.Val545Leu
NM_153280.2:c.1633G>T	NP_695012.1:p.Val545Leu
XM_005272649.1:c.1651G>T	XP_005272706.1:p.Val551Leu
XM_005272650.1:c.1633G>T	XP_005272707.1:p.Val545Leu
XM_011543953.1:c.1717G>T	XP_011542255.1:p.Val573Leu
XM_011543954.1:c.1675G>T	XP_011542256.1:p.Val559Leu
XM_011543955.1:c.1651G>T	XP_011542257.1:p.Val551Leu
XM_011543956.1:c.1633G>T	XP_011542258.1:p.Val545Leu
XR_949047.1:n.216-655C>A
XM_011543954.2:c.1675G>T	XP_011542256.1:p.Val559Leu
XM_017029777.1:c.1786G>T	XP_016885266.1:p.Val596Leu
XM_017029778.2:c.1717G>T	XP_016885267.1:p.Val573Leu
XM_017029779.2:c.1651G>T	XP_016885268.1:p.Val551Leu
XM_017029780.1:c.1633G>T	XP_016885269.1:p.Val545Leu
XM_017029781.1:c.1633G>T	XP_016885270.1:p.Val545Leu
XR_949047.3:n.284-655C>A
NM_003334.4:c.1633G>T MANE Select	NP_003325.2:p.Val545Leu
NM_153280.3:c.1633G>T	NP_695012.1:p.Val545Leu