LDH info

Canonical Allele Identifier: CA254569
Gene: LAMA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8793
ClinVar RCV Id: RCV000009338
dbSNP Id: rs137852758

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23939322C>T , CM000680.2:g.23939322C>T GRCh38
NC_000018.9:g.21519286C>T , CM000680.1:g.21519286C>T GRCh37
NC_000018.8:g.19773284C>T NCBI36
NG_007853.2:g.254725C>T

Transcript Alleles

HGVS Amino-acid change
NM_000227.4:c.4135C>T VV NP_000218.3:p.Gln1379Ter
NM_001127717.2:c.8794C>T VV NP_001121189.2:p.Gln2932Ter
NM_001127718.2:c.3967C>T VV NP_001121190.2:p.Gln1323Ter
NM_198129.2:c.8962C>T VV NP_937762.2:p.Gln2988Ter
XM_011525978.1:c.8989C>T XP_011524280.1:p.Gln2997Ter
XM_011525979.1:c.8980C>T XP_011524281.1:p.Gln2994Ter
XM_011525980.1:c.8971C>T XP_011524282.1:p.Gln2991Ter
XM_011525981.1:c.8857C>T XP_011524283.1:p.Gln2953Ter
XM_011525982.1:c.8692C>T XP_011524284.1:p.Gln2898Ter
XM_011525978.2:c.8989C>T XP_011524280.1:p.Gln2997Ter
XM_011525979.2:c.8980C>T XP_011524281.1:p.Gln2994Ter
XM_011525980.2:c.8971C>T XP_011524282.1:p.Gln2991Ter
XM_011525981.2:c.8857C>T XP_011524283.1:p.Gln2953Ter
XM_011525982.2:c.8692C>T XP_011524284.1:p.Gln2898Ter
XM_017025743.1:c.6841C>T XP_016881232.1:p.Gln2281Ter
XM_017025744.1:c.4531C>T XP_016881233.1:p.Gln1511Ter
XR_001753199.1:n.9230C>T
NM_000227.5:c.4135C>T VV NP_000218.3:p.Gln1379Ter
NM_001127717.3:c.8794C>T VV NP_001121189.2:p.Gln2932Ter
NM_001127718.3:c.3967C>T VV NP_001121190.2:p.Gln1323Ter
NM_198129.3:c.8962C>T VV NP_937762.2:p.Gln2988Ter
ENST00000269217.10:c.4135C>T ENSP00000269217.5:p.Gln1379Ter
ENST00000313654.13:c.8962C>T ENSP00000324532.8:p.Gln2988Ter
ENST00000399516.7:n.8794C>T ENSP00000382432.2:p.Gln2932Ter
ENST00000587184.5:n.3967C>T ENSP00000466557.1:p.Gln1323Ter
ENST00000588770.5:n.3540C>T