LDH info

Canonical Allele Identifier: CA248444
Gene: C3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 162178
ClinVar RCV Id: RCV000190315
dbSNP Id: rs2241394

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685219G>C , CM000681.2:g.6685219G>C GRCh38
NC_000019.9:g.6685230G>C , CM000681.1:g.6685230G>C GRCh37
NC_000019.8:g.6636230G>C NCBI36
NG_009557.1:g.40433C>G , LRG_27:g.40433C>G

Transcript Alleles

HGVS Amino-acid change
NM_000064.3:c.3811-73C>G VV NP_000055.2:p.=
ENST00000245907.10:c.3811-73C>G ENSP00000245907.4:p.=
ENST00000596238.1:n.254-73C>G
ENST00000601008.1:n.241+1527C>G ENSP00000471384.1:p.=