LDH info

Canonical Allele Identifier: CA084207
Gene: ELANE HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs267606781

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853329G>T , CM000681.2:g.853329G>T GRCh38
NC_000019.9:g.853329G>T , CM000681.1:g.853329G>T GRCh37
NC_000019.8:g.804329G>T NCBI36
NG_009627.1:g.6039G>T , LRG_57:g.6039G>T

Transcript Alleles

HGVS Amino-acid change
NM_001972.2:c.292G>T , LRG_57t1:c.292G>T NP_001963.1:p.Val98Leu
XM_011527775.1:c.292G>T XP_011526077.1:p.Val98Leu
XM_011527776.1:c.292G>T XP_011526078.1:p.Val98Leu
NM_001972.3:c.292G>T VV NP_001963.1:p.Val98Leu
NM_001972.4:c.292G>T VV MANE Preferred NP_001963.1:p.Val98Leu
ENST00000263621.1:c.292G>T ENSP00000263621.1:p.Val98Leu
ENST00000590230.5:c.292G>T ENSP00000466090.1:p.Val98Leu