LDH info

Canonical Allele Identifier: CA8915884
Gene: LAMA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 418280
ClinVar RCV Id: RCV000484655
dbSNP Id: rs754323928

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23876394C>G , CM000680.2:g.23876394C>G GRCh38
NC_000018.9:g.21456358C>G , CM000680.1:g.21456358C>G GRCh37
NC_000018.8:g.19710356C>G NCBI36
NG_007853.2:g.191797C>G

Transcript Alleles

HGVS Amino-acid change
NM_000227.4:c.272C>G VV NP_000218.3:p.Ser91Ter
NM_001127717.2:c.5099C>G VV NP_001121189.2:p.Ser1700Ter
NM_001127718.2:c.272C>G VV NP_001121190.2:p.Ser91Ter
NM_198129.2:c.5099C>G VV NP_937762.2:p.Ser1700Ter
XM_011525978.1:c.5126C>G XP_011524280.1:p.Ser1709Ter
XM_011525979.1:c.5117C>G XP_011524281.1:p.Ser1706Ter
XM_011525980.1:c.5108C>G XP_011524282.1:p.Ser1703Ter
XM_011525981.1:c.4994C>G XP_011524283.1:p.Ser1665Ter
XM_011525982.1:c.5126C>G XP_011524284.1:p.Ser1709Ter
XM_011525978.2:c.5126C>G XP_011524280.1:p.Ser1709Ter
XM_011525979.2:c.5117C>G XP_011524281.1:p.Ser1706Ter
XM_011525980.2:c.5108C>G XP_011524282.1:p.Ser1703Ter
XM_011525981.2:c.4994C>G XP_011524283.1:p.Ser1665Ter
XM_011525982.2:c.5126C>G XP_011524284.1:p.Ser1709Ter
XM_017025743.1:c.2978C>G XP_016881232.1:p.Ser993Ter
XM_017025744.1:c.668C>G XP_016881233.1:p.Ser223Ter
XR_001753199.1:n.5367C>G
NM_000227.5:c.272C>G VV NP_000218.3:p.Ser91Ter
NM_001127717.3:c.5099C>G VV NP_001121189.2:p.Ser1700Ter
NM_001127718.3:c.272C>G VV NP_001121190.2:p.Ser91Ter
NM_198129.3:c.5099C>G VV NP_937762.2:p.Ser1700Ter
ENST00000269217.10:c.272C>G ENSP00000269217.5:p.Ser91Ter
ENST00000313654.13:c.5099C>G ENSP00000324532.8:p.Ser1700Ter
ENST00000399516.7:n.5099C>G ENSP00000382432.2:p.Ser1700Ter
ENST00000587184.5:n.272C>G ENSP00000466557.1:p.Ser91Ter