LDH info

Canonical Allele Identifier: CA16041935
Gene: LAMA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370162
ClinVar RCV Id: RCV000409246
dbSNP Id: rs1057516280

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23903127T>C , CM000680.2:g.23903127T>C GRCh38
NC_000018.9:g.21483091T>C , CM000680.1:g.21483091T>C GRCh37
NC_000018.8:g.19737089T>C NCBI36
NG_007853.2:g.218530T>C

Transcript Alleles

HGVS Amino-acid change
NM_000227.4:c.1491+2T>C VV NP_000218.3:p.=
NM_001127717.2:c.6150+2T>C VV NP_001121189.2:p.=
NM_001127718.2:c.1323+2T>C VV NP_001121190.2:p.=
NM_198129.2:c.6318+2T>C VV NP_937762.2:p.=
XM_011525978.1:c.6345+2T>C XP_011524280.1:p.=
XM_011525979.1:c.6336+2T>C XP_011524281.1:p.=
XM_011525980.1:c.6327+2T>C XP_011524282.1:p.=
XM_011525981.1:c.6213+2T>C XP_011524283.1:p.=
XM_011525982.1:c.6345+2T>C XP_011524284.1:p.=
XM_011525978.2:c.6345+2T>C XP_011524280.1:p.=
XM_011525979.2:c.6336+2T>C XP_011524281.1:p.=
XM_011525980.2:c.6327+2T>C XP_011524282.1:p.=
XM_011525981.2:c.6213+2T>C XP_011524283.1:p.=
XM_011525982.2:c.6345+2T>C XP_011524284.1:p.=
XM_017025743.1:c.4197+2T>C XP_016881232.1:p.=
XM_017025744.1:c.1887+2T>C XP_016881233.1:p.=
XR_001753199.1:n.6586+2T>C
NM_000227.5:c.1491+2T>C VV NP_000218.3:p.=
NM_001127717.3:c.6150+2T>C VV NP_001121189.2:p.=
NM_001127718.3:c.1323+2T>C VV NP_001121190.2:p.=
NM_198129.3:c.6318+2T>C VV NP_937762.2:p.=
ENST00000269217.10:c.1491+2T>C ENSP00000269217.5:p.=
ENST00000313654.13:c.6318+2T>C ENSP00000324532.8:p.=
ENST00000399516.7:n.6150+2T>C ENSP00000382432.2:p.=
ENST00000586751.5:n.1096+2T>C
ENST00000587184.5:n.1323+2T>C ENSP00000466557.1:p.=
ENST00000588770.5:n.896+2T>C