LDH info

Canonical Allele Identifier: CA274429
Gene: LAMA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 189152
ClinVar RCV Id: RCV000169576
dbSNP Id: rs786204732

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23921587T>G , CM000680.2:g.23921587T>G GRCh38
NC_000018.9:g.21501551T>G , CM000680.1:g.21501551T>G GRCh37
NC_000018.8:g.19755549T>G NCBI36
NG_007853.2:g.236990T>G

Transcript Alleles

HGVS Amino-acid change
NM_000227.4:c.3350+2T>G VV NP_000218.3:p.=
NM_001127717.2:c.8009+2T>G VV NP_001121189.2:p.=
NM_001127718.2:c.3182+2T>G VV NP_001121190.2:p.=
NM_198129.2:c.8177+2T>G VV NP_937762.2:p.=
XM_011525978.1:c.8204+2T>G XP_011524280.1:p.=
XM_011525979.1:c.8195+2T>G XP_011524281.1:p.=
XM_011525980.1:c.8186+2T>G XP_011524282.1:p.=
XM_011525981.1:c.8072+2T>G XP_011524283.1:p.=
XM_011525982.1:c.7907+2T>G XP_011524284.1:p.=
XM_011525978.2:c.8204+2T>G XP_011524280.1:p.=
XM_011525979.2:c.8195+2T>G XP_011524281.1:p.=
XM_011525980.2:c.8186+2T>G XP_011524282.1:p.=
XM_011525981.2:c.8072+2T>G XP_011524283.1:p.=
XM_011525982.2:c.7907+2T>G XP_011524284.1:p.=
XM_017025743.1:c.6056+2T>G XP_016881232.1:p.=
XM_017025744.1:c.3746+2T>G XP_016881233.1:p.=
XR_001753199.1:n.8445+2T>G
NM_000227.5:c.3350+2T>G VV NP_000218.3:p.=
NM_001127717.3:c.8009+2T>G VV NP_001121189.2:p.=
NM_001127718.3:c.3182+2T>G VV NP_001121190.2:p.=
NM_198129.3:c.8177+2T>G VV NP_937762.2:p.=
ENST00000269217.10:c.3350+2T>G ENSP00000269217.5:p.=
ENST00000313654.13:c.8177+2T>G ENSP00000324532.8:p.=
ENST00000399516.7:n.8009+2T>G ENSP00000382432.2:p.=
ENST00000586751.5:n.2955+2T>G
ENST00000587184.5:n.3182+2T>G ENSP00000466557.1:p.=
ENST00000588770.5:n.2755+2T>G