LDH info

Canonical Allele Identifier: CA217186
Gene: GFAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66481
dbSNP Id: rs267607516

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44915185A>G , CM000679.2:g.44915185A>G GRCh38
NC_000017.10:g.42992553A>G , CM000679.1:g.42992553A>G GRCh37
NC_000017.9:g.40348079A>G NCBI36
NG_008401.1:g.5362T>C

Transcript Alleles

HGVS Amino-acid change
NM_001131019.2:c.302T>C VV NP_001124491.1:p.Leu101Pro
NM_001242376.1:c.302T>C VV NP_001229305.1:p.Leu101Pro
NM_002055.4:c.302T>C VV NP_002046.1:p.Leu101Pro
NM_001363846.1:c.302T>C VV NP_001350775.1:p.Leu101Pro
XM_024450690.1:c.302T>C XP_024306458.1:p.Leu101Pro
XM_024450691.1:c.302T>C XP_024306459.1:p.Leu101Pro
XM_024450692.1:c.302T>C XP_024306460.1:p.Leu101Pro
XM_024450693.1:c.302T>C XP_024306461.1:p.Leu101Pro
NM_002055.5:c.302T>C VV MANE Preferred NP_002046.1:p.Leu101Pro
NM_001131019.3:c.302T>C VV NP_001124491.1:p.Leu101Pro
NM_001242376.2:c.302T>C VV NP_001229305.1:p.Leu101Pro
ENST00000253408.9:c.302T>C ENSP00000253408.4:p.Leu101Pro
ENST00000376990.8:c.302T>C ENSP00000366189.4:p.Leu101Pro
ENST00000435360.6:c.302T>C ENSP00000403962.1:p.Leu101Pro
ENST00000585728.5:c.182-50T>C ENSP00000465208.1:p.=
ENST00000586793.5:c.302T>C ENSP00000468500.1:p.Leu101Pro
ENST00000588037.1:c.302T>C ENSP00000466163.1:p.Leu101Pro
ENST00000588316.1:c.302T>C ENSP00000465629.1:p.Leu101Pro
ENST00000588735.1:c.82+220T>C ENSP00000466598.1:p.=
ENST00000588957.5:c.-272+632T>C ENSP00000465565.1:p.=
ENST00000591327.1:n.316T>C
ENST00000592320.5:c.302T>C ENSP00000465320.1:p.Leu101Pro