LDH info

Canonical Allele Identifier: CA124432
Gene: MSX1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14885
ClinVar RCV Id: RCV000016014
dbSNP Id: rs104893854

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860357C>A , CM000666.2:g.4860357C>A GRCh38
NC_000004.11:g.4862084C>A , CM000666.1:g.4862084C>A GRCh37
NC_000004.10:g.4912985C>A NCBI36
NG_008121.1:g.5693C>A

Transcript Alleles

HGVS Amino-acid change
NM_002448.3:c.458C>A VV MANE Preferred NP_002439.2:p.Pro153Gln
ENST00000382723.4:c.458C>A ENSP00000372170.4:p.Pro153Gln