LDH info

Canonical Allele Identifier: CA275638
Gene: AGXT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 204077
ClinVar RCV Id: RCV000186283
dbSNP Id: rs180177180

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869171T>A , CM000664.2:g.240869171T>A GRCh38
NC_000002.11:g.241808588T>A , CM000664.1:g.241808588T>A GRCh37
NC_000002.10:g.241457261T>A NCBI36
NG_008005.1:g.5427T>A

Transcript Alleles

HGVS Amino-acid change
NM_000030.2:c.167T>A VV NP_000021.1:p.Ile56Asn
XR_924060.1:n.405+1062A>T
NM_000030.3:c.167T>A VV MANE Preferred NP_000021.1:p.Ile56Asn
ENST00000307503.3:c.167T>A ENSP00000302620.3:p.Ile56Asn
ENST00000472436.1:n.187T>A