LDH info

Canonical Allele Identifier: CA16040694
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370083
ClinVar RCV Id: RCV000410580
dbSNP Id: rs1057516219

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209625801dup , CM000663.2:g.209625801dup GRCh38
NC_000001.10:g.209799146dup , CM000663.1:g.209799146dup GRCh37
NC_000001.9:g.207865769dup NCBI36
NG_007116.1:g.31675dup

Transcript Alleles

HGVS Amino-acid change
NM_000228.2:c.1823dup VV NP_000219.2:p.Ser608ArgfsTer23
NM_001017402.1:c.1823dup VV NP_001017402.1:p.Ser608ArgfsTer23
NM_001127641.1:c.1823dup VV NP_001121113.1:p.Ser608ArgfsTer23
XM_005273124.3:c.1823dup XP_005273181.1:p.Ser608ArgfsTer23
XM_005273124.4:c.1823dup XP_005273181.1:p.Ser608ArgfsTer23
XM_017001272.2:c.1631dup XP_016856761.1:p.Ser544ArgfsTer23
NM_000228.3:c.1823dup VV MANE Preferred NP_000219.2:p.Ser608ArgfsTer23
ENST00000356082.8:c.1823dup ENSP00000348384.3:p.Ser608ArgfsTer23
ENST00000367030.7:c.1823dup ENSP00000355997.3:p.Ser608ArgfsTer23
ENST00000391911.5:c.1823dup ENSP00000375778.1:p.Ser608ArgfsTer23