Canonical Allele Identifier: CA10395722

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47201336A>G , CM000685.2:g.47201336A>G	GRCh38
NC_000023.10:g.47060735A>G , CM000685.1:g.47060735A>G	GRCh37
NC_000023.9:g.46945679A>G	NCBI36
NG_009161.1:g.15537A>G
NG_021353.1:g.1489A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.648A>G MANE Select	ENSP00000338413.6:p.Pro216=
ENST00000335972.10:c.648A>G	ENSP00000338413.6:p.Pro216=
ENST00000377351.8:c.648A>G	ENSP00000366568.4:p.Pro216=
ENST00000412206.5:c.648A>G	ENSP00000415033.1:p.Pro216=
ENST00000442035.5:c.690A>G	ENSP00000389583.1:p.Pro230=
NM_003334.3:c.648A>G	NP_003325.2:p.Pro216=
NM_153280.2:c.648A>G	NP_695012.1:p.Pro216=
XM_005272649.1:c.666A>G	XP_005272706.1:p.Pro222=
XM_005272650.1:c.648A>G	XP_005272707.1:p.Pro216=
XM_011543953.1:c.732A>G	XP_011542255.1:p.Pro244=
XM_011543954.1:c.690A>G	XP_011542256.1:p.Pro230=
XM_011543955.1:c.666A>G	XP_011542257.1:p.Pro222=
XM_011543956.1:c.648A>G	XP_011542258.1:p.Pro216=
XM_011543954.2:c.690A>G	XP_011542256.1:p.Pro230=
XM_017029777.1:c.801A>G	XP_016885266.1:p.Pro267=
XM_017029778.2:c.732A>G	XP_016885267.1:p.Pro244=
XM_017029779.2:c.666A>G	XP_016885268.1:p.Pro222=
XM_017029780.1:c.648A>G	XP_016885269.1:p.Pro216=
XM_017029781.1:c.648A>G	XP_016885270.1:p.Pro216=
NM_003334.4:c.648A>G MANE Select	NP_003325.2:p.Pro216=
NM_153280.3:c.648A>G	NP_695012.1:p.Pro216=