Canonical Allele Identifier: CA875809470

Gene: UBA1

Linked Data

• dbSNP Id: rs1392694069
• gnomAD v3: X-47193782-G-C
• gnomAD v4: X-47193782-G-C
• MyVariant Identifiers: chrX:g.47193782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47193782G>C , CM000685.2:g.47193782G>C	GRCh38
NC_000023.10:g.47053181G>C , CM000685.1:g.47053181G>C	GRCh37
NC_000023.9:g.46938125G>C	NCBI36
NG_009161.1:g.7983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377351.8:c.-1+2832G>C	ENSP00000366568.4:n.-1+2832G>C
ENST00000412206.5:c.-1+2048G>C	ENSP00000415033.1:n.-1+2048G>C
ENST00000427561.5:c.-6+2215G>C	ENSP00000397816.1:n.-6+2215G>C
NM_153280.2:c.-1+2832G>C	NP_695012.1:n.-1+2832G>C
XM_005272649.1:c.-303G>C	XP_005272706.1:n.-303G>C
XM_005272650.1:c.-357G>C	XP_005272707.1:n.-357G>C
XM_011543953.1:c.-320G>C	XP_011542255.1:n.-320G>C
XM_011543954.1:c.-248G>C	XP_011542256.1:n.-248G>C
XM_011543955.1:c.-300G>C	XP_011542257.1:n.-300G>C
NM_153280.3:c.-1+2832G>C	NP_695012.1:n.-1+2832G>C