Canonical Allele Identifier: CA412801419

Gene: UBA1

Linked Data

• MyVariant Identifiers: chrX:g.47065411G>C (hg19) ; chrX:g.47206012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206012G>C , CM000685.2:g.47206012G>C	GRCh38
NC_000023.10:g.47065411G>C , CM000685.1:g.47065411G>C	GRCh37
NC_000023.9:g.46950355G>C	NCBI36
NG_009161.1:g.20213G>C
NG_021353.1:g.6165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1640G>C MANE Select	ENSP00000338413.6:p.Ser547Thr
ENST00000335972.10:c.1640G>C	ENSP00000338413.6:p.Ser547Thr
ENST00000377351.8:c.1640G>C	ENSP00000366568.4:p.Ser547Thr
ENST00000490869.1:n.465-66G>C
NM_003334.3:c.1640G>C	NP_003325.2:p.Ser547Thr
NM_153280.2:c.1640G>C	NP_695012.1:p.Ser547Thr
XM_005272649.1:c.1658G>C	XP_005272706.1:p.Ser553Thr
XM_005272650.1:c.1640G>C	XP_005272707.1:p.Ser547Thr
XM_011543953.1:c.1724G>C	XP_011542255.1:p.Ser575Thr
XM_011543954.1:c.1682G>C	XP_011542256.1:p.Ser561Thr
XM_011543955.1:c.1658G>C	XP_011542257.1:p.Ser553Thr
XM_011543956.1:c.1640G>C	XP_011542258.1:p.Ser547Thr
XR_949047.1:n.216-662C>G
XM_011543954.2:c.1682G>C	XP_011542256.1:p.Ser561Thr
XM_017029777.1:c.1793G>C	XP_016885266.1:p.Ser598Thr
XM_017029778.2:c.1724G>C	XP_016885267.1:p.Ser575Thr
XM_017029779.2:c.1658G>C	XP_016885268.1:p.Ser553Thr
XM_017029780.1:c.1640G>C	XP_016885269.1:p.Ser547Thr
XM_017029781.1:c.1640G>C	XP_016885270.1:p.Ser547Thr
XR_949047.3:n.284-662C>G
NM_003334.4:c.1640G>C MANE Select	NP_003325.2:p.Ser547Thr
NM_153280.3:c.1640G>C	NP_695012.1:p.Ser547Thr