LDH info

Canonical Allele Identifier: CA117365
Gene: SPINK5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5269
dbSNP Id: rs2303067

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148101392A>G , CM000667.2:g.148101392A>G GRCh38
NC_000005.9:g.147480955A>G , CM000667.1:g.147480955A>G GRCh37
NC_000005.8:g.147461148A>G NCBI36
NG_009633.1:g.42421A>G , LRG_110:g.42421A>G

Transcript Alleles

HGVS Amino-acid change
NM_001127698.1:c.1258A>G VV NP_001121170.1:p.Lys420Glu
NM_001127699.1:c.1258A>G VV NP_001121171.1:p.Lys420Glu
NM_006846.3:c.1258A>G , LRG_110t1:c.1258A>G NP_006837.2:p.Lys420Glu
XM_011537550.1:c.1201A>G XP_011535852.1:p.Lys401Glu
XM_011537551.1:c.1174A>G XP_011535853.1:p.Lys392Glu
XM_011537551.2:c.1174A>G XP_011535853.1:p.Lys392Glu
NM_001127698.2:c.1258A>G VV NP_001121170.1:p.Lys420Glu
NM_001127699.2:c.1258A>G VV NP_001121171.1:p.Lys420Glu
NM_006846.4:c.1258A>G VV MANE Preferred NP_006837.2:p.Lys420Glu
ENST00000256084.7:c.1258A>G ENSP00000256084.7:p.Lys420Glu
ENST00000359874.7:c.1258A>G ENSP00000352936.3:p.Lys420Glu
ENST00000398454.5:c.1258A>G ENSP00000381472.1:p.Lys420Glu
ENST00000476608.1:n.774A>G
ENST00000507988.5:n.1422A>G
ENST00000508733.5:c.1201A>G ENSP00000421519.1:p.Lys401Glu