LDH info

Canonical Allele Identifier: CA122122
Gene: USF1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12295
ClinVar RCV Id: RCV000013089
dbSNP Id: rs2073658

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161040972C>T , CM000663.2:g.161040972C>T GRCh38
NC_000001.10:g.161010762C>T , CM000663.1:g.161010762C>T GRCh37
NC_000001.9:g.159277386C>T NCBI36
NG_011612.1:g.9996G>A

Transcript Alleles

HGVS Amino-acid change
NM_001276373.1:c.561-100G>A VV NP_001263302.1:p.=
NM_007122.4:c.561-100G>A VV NP_009053.1:p.=
NM_207005.2:c.384-100G>A VV NP_996888.1:p.=
NM_007122.5:c.561-100G>A VV MANE Preferred NP_009053.1:p.=
ENST00000368019.5:c.477-100G>A ENSP00000356998.1:p.=
ENST00000368020.5:c.561-100G>A ENSP00000356999.1:p.=
ENST00000368021.7:c.561-100G>A ENSP00000357000.3:p.=
ENST00000473969.6:c.*383-100G>A ENSP00000435671.1:p.=
ENST00000496363.5:n.701-100G>A
ENST00000528768.5:n.160-100G>A
ENST00000531842.1:c.378-100G>A ENSP00000435005.1:p.=