LDH info

Canonical Allele Identifier: CA118895
Gene: KLF6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7573
ClinVar RCV Id: RCV000008009
dbSNP Id: rs121909143

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3781811A>G , CM000672.2:g.3781811A>G GRCh38
NC_000010.10:g.3824003A>G , CM000672.1:g.3824003A>G GRCh37
NC_000010.9:g.3814003A>G NCBI36
NG_012277.1:g.8471T>C

Transcript Alleles

HGVS Amino-acid change
NM_001160124.1:c.506T>C VV NP_001153596.1:p.Leu169Pro
NM_001160125.1:c.506T>C VV NP_001153597.1:p.Leu169Pro
NM_001300.5:c.506T>C VV NP_001291.3:p.Leu169Pro
NR_027653.1:n.773T>C
NM_001300.6:c.506T>C VV MANE Preferred NP_001291.3:p.Leu169Pro
NM_001160124.2:c.506T>C VV NP_001153596.1:p.Leu169Pro
NR_027653.2:n.701T>C
NM_001160125.2:c.506T>C VV NP_001153597.1:p.Leu169Pro
ENST00000173785.4:n.241T>C
ENST00000380946.3:n.741T>C
ENST00000469435.1:c.506T>C ENSP00000419079.1:p.Leu169Pro
ENST00000497571.5:c.506T>C ENSP00000419923.1:p.Leu169Pro
ENST00000542957.1:c.506T>C ENSP00000445301.1:p.Leu169Pro