LDH info

Canonical Allele Identifier: CA392306844
Gene: SLC12A1 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229218T>A , CM000677.2:g.48229218T>A GRCh38
NC_000015.9:g.48521415T>A , CM000677.1:g.48521415T>A GRCh37
NC_000015.8:g.46308707T>A NCBI36
NG_021301.1:g.27918T>A

Transcript Alleles

HGVS Amino-acid change
NM_000338.2:c.754T>A VV NP_000329.2:p.Leu252Ile
NM_001184832.1:c.754T>A VV NP_001171761.1:p.Leu252Ile
XM_005254605.1:c.850T>A XP_005254662.1:p.Leu284Ile
XM_005254606.1:c.754T>A XP_005254663.1:p.Leu252Ile
XM_006720656.1:c.850T>A XP_006720719.1:p.Leu284Ile
XR_931896.1:n.1066T>A
XR_932203.1:n.229+738A>T
XR_932204.1:n.222+738A>T
XM_005254606.2:c.754T>A XP_005254663.1:p.Leu252Ile
XR_001751524.2:n.230+738A>T
XR_001751525.1:n.230+738A>T
XR_002957762.1:n.230+738A>T
XR_932204.3:n.224+738A>T
NM_000338.3:c.754T>A VV MANE Preferred NP_000329.2:p.Leu252Ile
NM_001184832.2:c.754T>A VV NP_001171761.1:p.Leu252Ile
ENST00000330289.10:c.754T>A ENSP00000331550.6:p.Leu252Ile
ENST00000380993.7:c.754T>A ENSP00000370381.3:p.Leu252Ile
ENST00000396577.7:c.754T>A ENSP00000379822.3:p.Leu252Ile
ENST00000558252.5:n.4877T>A
ENST00000558405.5:c.754T>A ENSP00000453409.1:p.Leu252Ile
ENST00000559641.5:c.193T>A ENSP00000453230.1:p.Leu65Ile
ENST00000559723.2:n.127T>A
ENST00000560692.5:n.4893T>A
ENST00000561127.5:c.193T>A ENSP00000453602.2:p.Leu65Ile