LDH info

Canonical Allele Identifier: CA392307248
Gene: SLC12A1 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229312T>C , CM000677.2:g.48229312T>C GRCh38
NC_000015.9:g.48521509T>C , CM000677.1:g.48521509T>C GRCh37
NC_000015.8:g.46308801T>C NCBI36
NG_021301.1:g.28012T>C

Transcript Alleles

HGVS Amino-acid change
NM_000338.2:c.848T>C VV NP_000329.2:p.Val283Ala
NM_001184832.1:c.848T>C VV NP_001171761.1:p.Val283Ala
XM_005254605.1:c.944T>C XP_005254662.1:p.Val315Ala
XM_005254606.1:c.848T>C XP_005254663.1:p.Val283Ala
XM_006720656.1:c.944T>C XP_006720719.1:p.Val315Ala
XR_931896.1:n.1160T>C
XR_932203.1:n.229+644A>G
XR_932204.1:n.222+644A>G
XM_005254606.2:c.848T>C XP_005254663.1:p.Val283Ala
XR_001751524.2:n.230+644A>G
XR_001751525.1:n.230+644A>G
XR_002957762.1:n.230+644A>G
XR_932204.3:n.224+644A>G
NM_000338.3:c.848T>C VV MANE Preferred NP_000329.2:p.Val283Ala
NM_001184832.2:c.848T>C VV NP_001171761.1:p.Val283Ala
ENST00000330289.10:c.848T>C ENSP00000331550.6:p.Val283Ala
ENST00000380993.7:c.848T>C ENSP00000370381.3:p.Val283Ala
ENST00000396577.7:c.848T>C ENSP00000379822.3:p.Val283Ala
ENST00000558252.5:n.4971T>C
ENST00000558405.5:c.848T>C ENSP00000453409.1:p.Val283Ala
ENST00000559641.5:c.287T>C ENSP00000453230.1:p.Val96Ala
ENST00000559723.2:n.221T>C
ENST00000560692.5:n.4987T>C
ENST00000561127.5:c.287T>C ENSP00000453602.2:p.Val96Ala