Canonical Allele Identifier: CA412801968

Gene: UBA1

Linked Data

• MyVariant Identifiers: chrX:g.47065469A>C (hg19) ; chrX:g.47206070A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206070A>C , CM000685.2:g.47206070A>C	GRCh38
NC_000023.10:g.47065469A>C , CM000685.1:g.47065469A>C	GRCh37
NC_000023.9:g.46950413A>C	NCBI36
NG_009161.1:g.20271A>C
NG_021353.1:g.6223A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1698A>C MANE Select	ENSP00000338413.6:p.Gln566His
ENST00000335972.10:c.1698A>C	ENSP00000338413.6:p.Gln566His
ENST00000377351.8:c.1698A>C	ENSP00000366568.4:p.Gln566His
ENST00000490869.1:n.465-8A>C
NM_003334.3:c.1698A>C	NP_003325.2:p.Gln566His
NM_153280.2:c.1698A>C	NP_695012.1:p.Gln566His
XM_005272649.1:c.1716A>C	XP_005272706.1:p.Gln572His
XM_005272650.1:c.1698A>C	XP_005272707.1:p.Gln566His
XM_011543953.1:c.1782A>C	XP_011542255.1:p.Gln594His
XM_011543954.1:c.1740A>C	XP_011542256.1:p.Gln580His
XM_011543955.1:c.1716A>C	XP_011542257.1:p.Gln572His
XM_011543956.1:c.1698A>C	XP_011542258.1:p.Gln566His
XR_949047.1:n.216-720T>G
XM_011543954.2:c.1740A>C	XP_011542256.1:p.Gln580His
XM_017029777.1:c.1851A>C	XP_016885266.1:p.Gln617His
XM_017029778.2:c.1782A>C	XP_016885267.1:p.Gln594His
XM_017029779.2:c.1716A>C	XP_016885268.1:p.Gln572His
XM_017029780.1:c.1698A>C	XP_016885269.1:p.Gln566His
XM_017029781.1:c.1698A>C	XP_016885270.1:p.Gln566His
XR_949047.3:n.284-720T>G
NM_003334.4:c.1698A>C MANE Select	NP_003325.2:p.Gln566His
NM_153280.3:c.1698A>C	NP_695012.1:p.Gln566His