LDH info

Canonical Allele Identifier: CA16040695
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371216
dbSNP Id: rs1057517096

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209629752G>A , CM000663.2:g.209629752G>A GRCh38
NC_000001.10:g.209803097G>A , CM000663.1:g.209803097G>A GRCh37
NC_000001.9:g.207869720G>A NCBI36
NG_007116.1:g.27724C>T

Transcript Alleles

HGVS Amino-acid change
NM_000228.2:c.1117C>T VV NP_000219.2:p.Gln373Ter
NM_001017402.1:c.1117C>T VV NP_001017402.1:p.Gln373Ter
NM_001127641.1:c.1117C>T VV NP_001121113.1:p.Gln373Ter
XM_005273124.3:c.1117C>T XP_005273181.1:p.Gln373Ter
XM_005273124.4:c.1117C>T XP_005273181.1:p.Gln373Ter
XM_017001272.2:c.925C>T XP_016856761.1:p.Gln309Ter
NM_000228.3:c.1117C>T VV MANE Preferred NP_000219.2:p.Gln373Ter
ENST00000356082.8:c.1117C>T ENSP00000348384.3:p.Gln373Ter
ENST00000367030.7:c.1117C>T ENSP00000355997.3:p.Gln373Ter
ENST00000391911.5:c.1117C>T ENSP00000375778.1:p.Gln373Ter