Canonical Allele Identifier: CA1132870704

Gene: UBA1

Linked Data

• dbSNP Id: rs1936670159
• gnomAD v3: X-47206227-C-G
• gnomAD v4: X-47206227-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206227C>G , CM000685.2:g.47206227C>G	GRCh38
NC_000023.10:g.47065626C>G , CM000685.1:g.47065626C>G	GRCh37
NC_000023.9:g.46950570C>G	NCBI36
NG_009161.1:g.20428C>G
NG_021353.1:g.6380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1742-21C>G MANE Select	ENSP00000338413.6:n.1742-21C>G
ENST00000335972.10:c.1742-21C>G	ENSP00000338413.6:n.1742-21C>G
ENST00000377351.8:c.1742-21C>G	ENSP00000366568.4:n.1742-21C>G
ENST00000490869.1:n.501-21C>G
NM_003334.3:c.1742-21C>G	NP_003325.2:n.1742-21C>G
NM_153280.2:c.1742-21C>G	NP_695012.1:n.1742-21C>G
XM_005272649.1:c.1760-21C>G	XP_005272706.1:n.1760-21C>G
XM_005272650.1:c.1742-21C>G	XP_005272707.1:n.1742-21C>G
XM_011543953.1:c.1826-21C>G	XP_011542255.1:n.1826-21C>G
XM_011543954.1:c.1784-21C>G	XP_011542256.1:n.1784-21C>G
XM_011543955.1:c.1760-21C>G	XP_011542257.1:n.1760-21C>G
XM_011543956.1:c.1742-21C>G	XP_011542258.1:n.1742-21C>G
XR_949047.1:n.216-877G>C
XM_011543954.2:c.1784-21C>G	XP_011542256.1:n.1784-21C>G
XM_017029777.1:c.1895-21C>G	XP_016885266.1:n.1895-21C>G
XM_017029778.2:c.1826-21C>G	XP_016885267.1:n.1826-21C>G
XM_017029779.2:c.1760-21C>G	XP_016885268.1:n.1760-21C>G
XM_017029780.1:c.1742-21C>G	XP_016885269.1:n.1742-21C>G
XM_017029781.1:c.1742-21C>G	XP_016885270.1:n.1742-21C>G
XR_949047.3:n.284-877G>C
NM_003334.4:c.1742-21C>G MANE Select	NP_003325.2:n.1742-21C>G
NM_153280.3:c.1742-21C>G	NP_695012.1:n.1742-21C>G