LDH info

Canonical Allele Identifier: CA124426
Gene: MSX1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14881
ClinVar RCV Id: RCV000016010
dbSNP Id: rs104893850

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862808C>T , CM000666.2:g.4862808C>T GRCh38
NC_000004.11:g.4864535C>T , CM000666.1:g.4864535C>T GRCh37
NC_000004.10:g.4915436C>T NCBI36
NG_008121.1:g.8144C>T

Transcript Alleles

HGVS Amino-acid change
NM_002448.3:c.577C>T VV MANE Preferred NP_002439.2:p.Gln193Ter
ENST00000382723.4:c.577C>T ENSP00000372170.4:p.Gln193Ter
ENST00000468421.1:n.289C>T