LDH info

Canonical Allele Identifier: CA1653123
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 255609
dbSNP Id: rs2293275

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48694236T>C , CM000664.2:g.48694236T>C GRCh38
NC_000002.11:g.48921375T>C , CM000664.1:g.48921375T>C GRCh37
NC_000002.10:g.48774879T>C NCBI36
NG_008193.1:g.66506A>G
NG_033050.1:g.169312T>C
NG_008193.2:g.66506A>G
NG_033050.2:g.169312T>C

Transcript Alleles

HGVS Amino-acid change
NM_000233.3:c.935A>G (LHCGR) VV NP_000224.2:p.Asn312Ser
NM_001198593.1:c.3441+22556T>C (STON1-GTF2A1L) VV NP_001185522.1:p.=
XM_005264309.2:c.-11+5A>G (LHCGR) XP_005264366.1:p.=
XM_011532828.1:c.860A>G (LHCGR) XP_011531130.1:p.Asn287Ser
XM_011532829.1:c.674A>G (LHCGR) XP_011531131.1:p.Asn225Ser
XM_011532830.1:c.606-5387A>G (LHCGR) XP_011531132.1:p.=
XM_011532831.1:c.299A>G (LHCGR) XP_011531133.1:p.Asn100Ser
XM_005264309.3:c.-11+5A>G (LHCGR) XP_005264366.1:p.=
XM_017004089.1:c.680A>G (LHCGR) XP_016859578.1:p.Asn227Ser
XM_017004090.1:c.299A>G (LHCGR) XP_016859579.1:p.Asn100Ser
NM_000233.4:c.935A>G (LHCGR) VV NP_000224.2:p.Asn312Ser
ENST00000294954.11:c.935A>G ENSP00000294954.6:p.Asn312Ser
ENST00000401907.5:c.935A>G ENSP00000385406.1:p.Asn312Ser
ENST00000402114.6:c.3441+22556T>C ENSP00000385701.1:p.=
ENST00000403273.5:c.935A>G ENSP00000385847.1:p.Asn312Ser
ENST00000405626.5:n.866+4379A>G ENSP00000386033.1:p.=
ENST00000508440.1:n.276+22556T>C ENSP00000421474.1:p.=
ENST00000602369.3:c.*208A>G ENSP00000473498.1:p.=