LDH info

Canonical Allele Identifier: CA274058
Gene: AGXT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 188866
ClinVar RCV Id: RCV000169219
dbSNP Id: rs180177195

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869306T>C , CM000664.2:g.240869306T>C GRCh38
NC_000002.11:g.241808723T>C , CM000664.1:g.241808723T>C GRCh37
NC_000002.10:g.241457396T>C NCBI36
NG_008005.1:g.5562T>C

Transcript Alleles

HGVS Amino-acid change
NM_000030.2:c.302T>C VV NP_000021.1:p.Leu101Pro
XR_924060.1:n.405+927A>G
NM_000030.3:c.302T>C VV MANE Preferred NP_000021.1:p.Leu101Pro
ENST00000307503.3:c.302T>C ENSP00000302620.3:p.Leu101Pro
ENST00000472436.1:n.322T>C