LDH info

Canonical Allele Identifier: CA16041927
Gene: LAMA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370468
ClinVar RCV Id: RCV000409262
dbSNP Id: rs1057516512

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23873135C>T , CM000680.2:g.23873135C>T GRCh38
NC_000018.9:g.21453099C>T , CM000680.1:g.21453099C>T GRCh37
NC_000018.8:g.19707097C>T NCBI36
NG_007853.2:g.188538C>T

Transcript Alleles

HGVS Amino-acid change
NM_000227.4:c.91C>T VV NP_000218.3:p.Gln31Ter
NM_001127717.2:c.4998+1474C>T VV NP_001121189.2:p.=
NM_001127718.2:c.91C>T VV NP_001121190.2:p.Gln31Ter
NM_198129.2:c.4998+1474C>T VV NP_937762.2:p.=
XM_011525978.1:c.5025+1474C>T XP_011524280.1:p.=
XM_011525979.1:c.5016+1474C>T XP_011524281.1:p.=
XM_011525980.1:c.5007+1474C>T XP_011524282.1:p.=
XM_011525981.1:c.4893+1474C>T XP_011524283.1:p.=
XM_011525982.1:c.5025+1474C>T XP_011524284.1:p.=
XM_011525978.2:c.5025+1474C>T XP_011524280.1:p.=
XM_011525979.2:c.5016+1474C>T XP_011524281.1:p.=
XM_011525980.2:c.5007+1474C>T XP_011524282.1:p.=
XM_011525981.2:c.4893+1474C>T XP_011524283.1:p.=
XM_011525982.2:c.5025+1474C>T XP_011524284.1:p.=
XM_017025743.1:c.2877+1474C>T XP_016881232.1:p.=
XM_017025744.1:c.567+1474C>T XP_016881233.1:p.=
XR_001753199.1:n.5266+1474C>T
NM_000227.5:c.91C>T VV NP_000218.3:p.Gln31Ter
NM_001127717.3:c.4998+1474C>T VV NP_001121189.2:p.=
NM_001127718.3:c.91C>T VV NP_001121190.2:p.Gln31Ter
NM_198129.3:c.4998+1474C>T VV NP_937762.2:p.=
ENST00000269217.10:c.91C>T ENSP00000269217.5:p.Gln31Ter
ENST00000313654.13:c.4998+1474C>T ENSP00000324532.8:p.=
ENST00000399516.7:n.4998+1474C>T ENSP00000382432.2:p.=
ENST00000587184.5:n.91C>T ENSP00000466557.1:p.Gln31Ter