LDH info

Canonical Allele Identifier: CA123917
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14385
ClinVar RCV Id: RCV000015462
dbSNP Id: rs121912519

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688084C>T , CM000664.2:g.48688084C>T GRCh38
NC_000002.11:g.48915223C>T , CM000664.1:g.48915223C>T GRCh37
NC_000002.10:g.48768727C>T NCBI36
NG_008193.1:g.72658G>A
NG_033050.1:g.163160C>T
NG_008193.2:g.72658G>A
NG_033050.2:g.163160C>T

Transcript Alleles

HGVS Amino-acid change
NM_000233.3:c.1713G>A (LHCGR) VV NP_000224.2:p.Met571Ile
NM_001198593.1:c.3441+16404C>T (STON1-GTF2A1L) VV NP_001185522.1:p.=
XM_005264309.2:c.756G>A (LHCGR) XP_005264366.1:p.Met252Ile
XM_006712015.2:c.783G>A (LHCGR) XP_006712078.1:p.Met261Ile
XM_011532828.1:c.1638G>A (LHCGR) XP_011531130.1:p.Met546Ile
XM_011532829.1:c.1452G>A (LHCGR) XP_011531131.1:p.Met484Ile
XM_011532830.1:c.1371G>A (LHCGR) XP_011531132.1:p.Met457Ile
XM_011532831.1:c.1077G>A (LHCGR) XP_011531133.1:p.Met359Ile
XM_011532832.1:c.783G>A (LHCGR) XP_011531134.1:p.Met261Ile
XM_011532833.1:c.783G>A (LHCGR) XP_011531135.1:p.Met261Ile
XM_011532834.1:c.756G>A (LHCGR) XP_011531136.1:p.Met252Ile
XM_005264309.3:c.756G>A (LHCGR) XP_005264366.1:p.Met252Ile
XM_006712015.3:c.783G>A (LHCGR) XP_006712078.1:p.Met261Ile
XM_011532834.2:c.756G>A (LHCGR) XP_011531136.1:p.Met252Ile
XM_017004089.1:c.1458G>A (LHCGR) XP_016859578.1:p.Met486Ile
XM_017004090.1:c.1077G>A (LHCGR) XP_016859579.1:p.Met359Ile
NM_000233.4:c.1713G>A (LHCGR) VV NP_000224.2:p.Met571Ile
ENST00000294954.11:c.1713G>A ENSP00000294954.6:p.Met571Ile
ENST00000401907.5:c.*25G>A ENSP00000385406.1:p.=
ENST00000402114.6:c.3441+16404C>T ENSP00000385701.1:p.=
ENST00000403273.5:c.*457G>A ENSP00000385847.1:p.=
ENST00000405626.5:n.1632G>A ENSP00000386033.1:p.Met544Ile
ENST00000508440.1:n.276+16404C>T ENSP00000421474.1:p.=
ENST00000602369.3:c.*220+6140G>A ENSP00000473498.1:p.=