LDH info

Canonical Allele Identifier: CA004987
Gene: COL3A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17205
dbSNP Id: rs1800255

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188999354G>A , CM000664.2:g.188999354G>A GRCh38
NC_000002.11:g.189864080G>A , CM000664.1:g.189864080G>A GRCh37
NC_000002.10:g.189572325G>A NCBI36
NG_007404.1:g.29982G>A , LRG_3:g.29982G>A

Transcript Alleles

HGVS Amino-acid change
NM_000090.3:c.2092G>A , LRG_3t1:c.2092G>A NP_000081.1:p.Ala698Thr
NM_000090.4:c.2092G>A VV MANE Preferred NP_000081.2:p.Ala698Thr
ENST00000304636.7:c.2092G>A ENSP00000304408.3:p.Ala698Thr
ENST00000317840.9:c.2092G>A ENSP00000315243.6:p.Ala698Thr