LDH info

Canonical Allele Identifier: CA342372
Gene: SH3TC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21690
dbSNP Id: rs80338926

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027760G>A , CM000667.2:g.149027760G>A GRCh38
NC_000005.9:g.148407323G>A , CM000667.1:g.148407323G>A GRCh37
NC_000005.8:g.148387516G>A NCBI36
NG_007947.2:g.40415C>T , LRG_269:g.40415C>T

Transcript Alleles

HGVS Amino-acid change
NM_024577.3:c.1972C>T , LRG_269t1:c.1972C>T NP_078853.2:p.Arg658Cys
ENST00000323829.9:c.*1360C>T ENSP00000313025.5:p.=
ENST00000504517.5:n.1502C>T ENSP00000421779.1:p.=
ENST00000504690.5:c.1972C>T ENSP00000425627.1:p.Arg658Cys
ENST00000510779.1:n.1022C>T
ENST00000511307.5:c.*1752C>T ENSP00000421420.1:p.=
ENST00000512049.5:c.1951C>T ENSP00000421860.1:p.Arg651Cys
ENST00000513604.5:c.*1360C>T ENSP00000423111.1:p.=
ENST00000515425.5:c.1972C>T ENSP00000423660.1:p.Arg658Cys