LDH info

Canonical Allele Identifier: CA257285
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14550
dbSNP Id: rs121912486

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209633102C>G , CM000663.2:g.209633102C>G GRCh38
NC_000001.10:g.209806447C>G , CM000663.1:g.209806447C>G GRCh37
NC_000001.9:g.207873070C>G NCBI36
NG_007116.1:g.24374G>C

Transcript Alleles

HGVS Amino-acid change
NM_000228.2:c.596G>C VV NP_000219.2:p.Gly199Ala
NM_001017402.1:c.596G>C VV NP_001017402.1:p.Gly199Ala
NM_001127641.1:c.596G>C VV NP_001121113.1:p.Gly199Ala
XM_005273124.3:c.596G>C XP_005273181.1:p.Gly199Ala
XM_005273124.4:c.596G>C XP_005273181.1:p.Gly199Ala
XM_017001272.2:c.404G>C XP_016856761.1:p.Gly135Ala
NM_000228.3:c.596G>C VV MANE Preferred NP_000219.2:p.Gly199Ala
ENST00000356082.8:c.596G>C ENSP00000348384.3:p.Gly199Ala
ENST00000367030.7:c.596G>C ENSP00000355997.3:p.Gly199Ala
ENST00000391911.5:c.596G>C ENSP00000375778.1:p.Gly199Ala