LDH info

Canonical Allele Identifier: CA122629
Gene: TSHB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12685
ClinVar RCV Id: RCV000013522
dbSNP Id: rs121918669

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033456G>T , CM000663.2:g.115033456G>T GRCh38
NC_000001.10:g.115576077G>T , CM000663.1:g.115576077G>T GRCh37
NC_000001.9:g.115377600G>T NCBI36
NG_015891.1:g.8663G>T

Transcript Alleles

HGVS Amino-acid change
NM_000549.4:c.94G>T VV NP_000540.2:p.Glu32Ter
XM_011542065.1:c.94G>T XP_011540367.1:p.Glu32Ter
XM_011542065.2:c.94G>T XP_011540367.1:p.Glu32Ter
NM_000549.5:c.94G>T VV MANE Preferred NP_000540.2:p.Glu32Ter
ENST00000256592.2:c.94G>T ENSP00000256592.1:p.Glu32Ter
ENST00000369517.1:n.94G>T ENSP00000358530.1:p.Glu32Ter