LDH info

Canonical Allele Identifier: CA490015916
Gene: SLC12A1 HGNC NCBI

Identifiers and link-outs to other resources

MyVariant Identifiers: chr15:g.48521405T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229208T>A , CM000677.2:g.48229208T>A GRCh38
NC_000015.9:g.48521405T>A , CM000677.1:g.48521405T>A GRCh37
NC_000015.8:g.46308697T>A NCBI36
NG_021301.1:g.27908T>A

Transcript Alleles

HGVS Amino-acid change
NM_000338.2:c.744T>A VV NP_000329.2:p.Ile248=
NM_001184832.1:c.744T>A VV NP_001171761.1:p.Ile248=
XM_005254605.1:c.840T>A XP_005254662.1:p.Ile280=
XM_005254606.1:c.744T>A XP_005254663.1:p.Ile248=
XM_006720656.1:c.840T>A XP_006720719.1:p.Ile280=
XR_931896.1:n.1056T>A
XR_932203.1:n.229+748A>T
XR_932204.1:n.222+748A>T
XM_005254606.2:c.744T>A XP_005254663.1:p.Ile248=
XR_001751524.2:n.230+748A>T
XR_001751525.1:n.230+748A>T
XR_002957762.1:n.230+748A>T
XR_932204.3:n.224+748A>T
NM_000338.3:c.744T>A VV MANE Preferred NP_000329.2:p.Ile248=
NM_001184832.2:c.744T>A VV NP_001171761.1:p.Ile248=
ENST00000330289.10:c.744T>A ENSP00000331550.6:p.Ile248=
ENST00000380993.7:c.744T>A ENSP00000370381.3:p.Ile248=
ENST00000396577.7:c.744T>A ENSP00000379822.3:p.Ile248=
ENST00000558252.5:n.4867T>A
ENST00000558405.5:c.744T>A ENSP00000453409.1:p.Ile248=
ENST00000559641.5:c.183T>A ENSP00000453230.1:p.Ile61=
ENST00000559723.2:n.117T>A
ENST00000560692.5:n.4883T>A
ENST00000561127.5:c.183T>A ENSP00000453602.2:p.Ile61=