LDH info

Canonical Allele Identifier: CA340955
Gene: UBA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9782
ClinVar RCV Id: RCV000010436
dbSNP Id: rs80356547

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47206103C>T , CM000685.2:g.47206103C>T GRCh38
NC_000023.10:g.47065502C>T , CM000685.1:g.47065502C>T GRCh37
NC_000023.9:g.46950446C>T NCBI36
NG_009161.1:g.20304C>T
NG_021353.1:g.6256C>T

Transcript Alleles

HGVS Amino-acid change
NM_003334.3:c.1731C>T VV NP_003325.2:p.Asn577=
NM_153280.2:c.1731C>T VV NP_695012.1:p.Asn577=
XM_005272649.1:c.1749C>T XP_005272706.1:p.Asn583=
XM_005272650.1:c.1731C>T XP_005272707.1:p.Asn577=
XM_011543953.1:c.1815C>T XP_011542255.1:p.Asn605=
XM_011543954.1:c.1773C>T XP_011542256.1:p.Asn591=
XM_011543955.1:c.1749C>T XP_011542257.1:p.Asn583=
XM_011543956.1:c.1731C>T XP_011542258.1:p.Asn577=
XR_949047.1:n.216-753G>A
XM_011543954.2:c.1773C>T XP_011542256.1:p.Asn591=
XM_017029777.1:c.1884C>T XP_016885266.1:p.Asn628=
XM_017029778.2:c.1815C>T XP_016885267.1:p.Asn605=
XM_017029779.2:c.1749C>T XP_016885268.1:p.Asn583=
XM_017029780.1:c.1731C>T XP_016885269.1:p.Asn577=
XM_017029781.1:c.1731C>T XP_016885270.1:p.Asn577=
XR_949047.3:n.284-753G>A
NM_003334.4:c.1731C>T VV MANE Preferred NP_003325.2:p.Asn577=
ENST00000335972.10:c.1731C>T ENSP00000338413.6:p.Asn577=
ENST00000377351.8:c.1731C>T ENSP00000366568.4:p.Asn577=
ENST00000490869.1:n.490C>T