Canonical Allele Identifier: CA10653928

Gene: UBA1

Linked Data

• ClinVar Variation Id: 368327
• ClinVar RCV Id: RCV000265712
• dbSNP Id: rs1057515898
• gnomAD v3: X-47193847-G-A
• gnomAD v4: X-47193847-G-A
• MyVariant Identifiers: chrX:g.47053246G>A (hg19) ; chrX:g.47193847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47193847G>A , CM000685.2:g.47193847G>A	GRCh38
NC_000023.10:g.47053246G>A , CM000685.1:g.47053246G>A	GRCh37
NC_000023.9:g.46938190G>A	NCBI36
NG_009161.1:g.8048G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000335972.11:c.-178G>A MANE Select	ENSP00000338413.6:n.-178G>A
ENST00000335972.10:c.-178G>A	ENSP00000338413.6:n.-178G>A
ENST00000377351.8:c.-1+2897G>A	ENSP00000366568.4:n.-1+2897G>A
ENST00000412206.5:c.-1+2113G>A	ENSP00000415033.1:n.-1+2113G>A
ENST00000427561.5:c.-6+2280G>A	ENSP00000397816.1:n.-6+2280G>A
ENST00000442035.5:c.-183G>A	ENSP00000389583.1:n.-183G>A
ENST00000457753.5:c.-214G>A	ENSP00000404796.1:n.-214G>A
NM_003334.3:c.-178G>A	NP_003325.2:n.-178G>A
NM_153280.2:c.-1+2897G>A	NP_695012.1:n.-1+2897G>A
XM_005272649.1:c.-238G>A	XP_005272706.1:n.-238G>A
XM_005272650.1:c.-292G>A	XP_005272707.1:n.-292G>A
XM_011543953.1:c.-255G>A	XP_011542255.1:n.-255G>A
XM_011543954.1:c.-183G>A	XP_011542256.1:n.-183G>A
XM_011543955.1:c.-235G>A	XP_011542257.1:n.-235G>A
XM_011543954.2:c.-183G>A	XP_011542256.1:n.-183G>A
NM_003334.4:c.-178G>A MANE Select	NP_003325.2:n.-178G>A
NM_153280.3:c.-1+2897G>A	NP_695012.1:n.-1+2897G>A