Canonical Allele Identifier: CA2739273460

Gene: UBA1

Linked Data

• ClinVar Variation Id: 2857156
• ClinVar RCV Id: RCV003623354

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47212419T>C , CM000685.2:g.47212419T>C	GRCh38
NC_000023.10:g.47071818T>C , CM000685.1:g.47071818T>C	GRCh37
NC_000023.9:g.46956762T>C	NCBI36
NG_009161.1:g.26620T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.2465-5T>C MANE Select	ENSP00000338413.6:n.2465-5T>C
ENST00000335972.10:c.2465-5T>C	ENSP00000338413.6:n.2465-5T>C
ENST00000377269.3:c.809-5T>C	ENSP00000366481.3:n.809-5T>C
ENST00000377351.8:c.2465-5T>C	ENSP00000366568.4:n.2465-5T>C
NM_003334.3:c.2465-5T>C	NP_003325.2:n.2465-5T>C
NM_153280.2:c.2465-5T>C	NP_695012.1:n.2465-5T>C
XM_005272649.1:c.2483-5T>C	XP_005272706.1:n.2483-5T>C
XM_005272650.1:c.2465-5T>C	XP_005272707.1:n.2465-5T>C
XM_011543953.1:c.2549-5T>C	XP_011542255.1:n.2549-5T>C
XM_011543954.1:c.2507-5T>C	XP_011542256.1:n.2507-5T>C
XM_011543955.1:c.2483-5T>C	XP_011542257.1:n.2483-5T>C
XM_011543956.1:c.2465-5T>C	XP_011542258.1:n.2465-5T>C
XR_949047.1:n.215+4587A>G
XM_011543954.2:c.2507-5T>C	XP_011542256.1:n.2507-5T>C
XM_017029777.1:c.2618-5T>C	XP_016885266.1:n.2618-5T>C
XM_017029778.2:c.2549-5T>C	XP_016885267.1:n.2549-5T>C
XM_017029779.2:c.2483-5T>C	XP_016885268.1:n.2483-5T>C
XM_017029780.1:c.2465-5T>C	XP_016885269.1:n.2465-5T>C
XM_017029781.1:c.2465-5T>C	XP_016885270.1:n.2465-5T>C
XR_949047.3:n.283+4587A>G
NM_003334.4:c.2465-5T>C MANE Select	NP_003325.2:n.2465-5T>C
NM_153280.3:c.2465-5T>C	NP_695012.1:n.2465-5T>C