LDH info

Canonical Allele Identifier: CA490016154
Gene: SLC12A1 HGNC NCBI

Identifiers and link-outs to other resources

MyVariant Identifiers: chr15:g.48521510A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229313A>C , CM000677.2:g.48229313A>C GRCh38
NC_000015.9:g.48521510A>C , CM000677.1:g.48521510A>C GRCh37
NC_000015.8:g.46308802A>C NCBI36
NG_021301.1:g.28013A>C

Transcript Alleles

HGVS Amino-acid change
NM_000338.2:c.849A>C VV NP_000329.2:p.Val283=
NM_001184832.1:c.849A>C VV NP_001171761.1:p.Val283=
XM_005254605.1:c.945A>C XP_005254662.1:p.Val315=
XM_005254606.1:c.849A>C XP_005254663.1:p.Val283=
XM_006720656.1:c.945A>C XP_006720719.1:p.Val315=
XR_931896.1:n.1161A>C
XR_932203.1:n.229+643T>G
XR_932204.1:n.222+643T>G
XM_005254606.2:c.849A>C XP_005254663.1:p.Val283=
XR_001751524.2:n.230+643T>G
XR_001751525.1:n.230+643T>G
XR_002957762.1:n.230+643T>G
XR_932204.3:n.224+643T>G
NM_000338.3:c.849A>C VV MANE Preferred NP_000329.2:p.Val283=
NM_001184832.2:c.849A>C VV NP_001171761.1:p.Val283=
ENST00000330289.10:c.849A>C ENSP00000331550.6:p.Val283=
ENST00000380993.7:c.849A>C ENSP00000370381.3:p.Val283=
ENST00000396577.7:c.849A>C ENSP00000379822.3:p.Val283=
ENST00000558252.5:n.4972A>C
ENST00000558405.5:c.849A>C ENSP00000453409.1:p.Val283=
ENST00000559641.5:c.288A>C ENSP00000453230.1:p.Val96=
ENST00000559723.2:n.222A>C
ENST00000560692.5:n.4988A>C
ENST00000561127.5:c.288A>C ENSP00000453602.2:p.Val96=