Canonical Allele Identifier: CA2427841083

Gene: UBA1

Linked Data

• dbSNP Id: rs1936105618

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47193854A>G , CM000685.2:g.47193854A>G	GRCh38
NC_000023.10:g.47053253A>G , CM000685.1:g.47053253A>G	GRCh37
NC_000023.9:g.46938197A>G	NCBI36
NG_009161.1:g.8055A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000335972.11:c.-171A>G MANE Select	ENSP00000338413.6:n.-171A>G
ENST00000335972.10:c.-171A>G	ENSP00000338413.6:n.-171A>G
ENST00000377351.8:c.-1+2904A>G	ENSP00000366568.4:n.-1+2904A>G
ENST00000412206.5:c.-1+2120A>G	ENSP00000415033.1:n.-1+2120A>G
ENST00000427561.5:c.-6+2287A>G	ENSP00000397816.1:n.-6+2287A>G
ENST00000442035.5:c.-176A>G	ENSP00000389583.1:n.-176A>G
ENST00000457753.5:c.-207A>G	ENSP00000404796.1:n.-207A>G
NM_003334.3:c.-171A>G	NP_003325.2:n.-171A>G
NM_153280.2:c.-1+2904A>G	NP_695012.1:n.-1+2904A>G
XM_005272649.1:c.-231A>G	XP_005272706.1:n.-231A>G
XM_005272650.1:c.-285A>G	XP_005272707.1:n.-285A>G
XM_011543953.1:c.-248A>G	XP_011542255.1:n.-248A>G
XM_011543954.1:c.-176A>G	XP_011542256.1:n.-176A>G
XM_011543955.1:c.-228A>G	XP_011542257.1:n.-228A>G
XM_011543954.2:c.-176A>G	XP_011542256.1:n.-176A>G
NM_003334.4:c.-171A>G MANE Select	NP_003325.2:n.-171A>G
NM_153280.3:c.-1+2904A>G	NP_695012.1:n.-1+2904A>G