Canonical Allele Identifier: CA10395612
Gene: UBA1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47199119A>G , CM000685.2:g.47199119A>G GRCh38
NC_000023.10:g.47058518A>G , CM000685.1:g.47058518A>G GRCh37
NC_000023.9:g.46943462A>G NCBI36
NG_009161.1:g.13320A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000335972.11:c.176+13A>G MANE Select ENSP00000338413.6:n.176+13A>G
ENST00000335972.10:c.176+13A>G ENSP00000338413.6:n.176+13A>G
ENST00000377351.8:c.176+13A>G ENSP00000366568.4:n.176+13A>G
ENST00000412206.5:c.176+13A>G ENSP00000415033.1:n.176+13A>G
ENST00000427561.5:c.218+13A>G ENSP00000397816.1:n.218+13A>G
ENST00000442035.5:c.218+13A>G ENSP00000389583.1:n.218+13A>G
ENST00000451702.2:c.329+13A>G ENSP00000401101.1:n.329+13A>G
ENST00000457753.5:c.329+13A>G ENSP00000404796.1:n.329+13A>G
NM_003334.3:c.176+13A>G NP_003325.2:n.176+13A>G
NM_153280.2:c.176+13A>G NP_695012.1:n.176+13A>G
XM_005272649.1:c.194+13A>G XP_005272706.1:n.194+13A>G
XM_005272650.1:c.176+13A>G XP_005272707.1:n.176+13A>G
XM_011543953.1:c.260+13A>G XP_011542255.1:n.260+13A>G
XM_011543954.1:c.218+13A>G XP_011542256.1:n.218+13A>G
XM_011543955.1:c.194+13A>G XP_011542257.1:n.194+13A>G
XM_011543956.1:c.176+13A>G XP_011542258.1:n.176+13A>G
XM_011543954.2:c.218+13A>G XP_011542256.1:n.218+13A>G
XM_017029777.1:c.329+13A>G XP_016885266.1:n.329+13A>G
XM_017029778.2:c.260+13A>G XP_016885267.1:n.260+13A>G
XM_017029779.2:c.194+13A>G XP_016885268.1:n.194+13A>G
XM_017029780.1:c.176+13A>G XP_016885269.1:n.176+13A>G
XM_017029781.1:c.176+13A>G XP_016885270.1:n.176+13A>G
NM_003334.4:c.176+13A>G MANE Select NP_003325.2:n.176+13A>G
NM_153280.3:c.176+13A>G NP_695012.1:n.176+13A>G