LDH info

Canonical Allele Identifier: CA171384814
Gene: MCPH1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1031309

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6494837A>C , CM000670.2:g.6494837A>C GRCh38
NC_000008.10:g.6352358A>C , CM000670.1:g.6352358A>C GRCh37
NC_000008.9:g.6339766A>C NCBI36
NG_016619.1:g.93246A>C
NG_016619.2:g.93246A>C

Transcript Alleles

HGVS Amino-acid change
NM_024596.3:c.2137-5015A>C VV NP_078872.2:p.=
XM_011534755.1:c.2137-5015A>C XP_011533057.1:p.=
XM_011534756.1:c.2137-5015A>C XP_011533058.1:p.=
XM_011534757.1:c.2137-5015A>C XP_011533059.1:p.=
XM_011534758.1:c.2137-5015A>C XP_011533060.1:p.=
XM_011534759.1:c.2137-5015A>C XP_011533061.1:p.=
XM_011534760.1:c.1612-5015A>C XP_011533062.1:p.=
NM_001322042.1:c.2137-5015A>C VV NP_001308971.1:p.=
NM_001363979.1:c.2137-5015A>C VV NP_001350908.1:p.=
NM_001363980.1:c.1935+39585A>C VV NP_001350909.1:p.=
NM_024596.4:c.2137-5015A>C VV NP_078872.2:p.=
XM_011534755.3:c.2137-5015A>C XP_011533057.1:p.=
XM_011534756.3:c.2137-5015A>C XP_011533058.1:p.=
XM_011534757.3:c.2137-5015A>C XP_011533059.1:p.=
XM_011534758.3:c.2137-5015A>C XP_011533060.1:p.=
XM_011534759.3:c.2137-5015A>C XP_011533061.1:p.=
XM_011534760.2:c.1612-5015A>C XP_011533062.1:p.=
XM_017013829.2:c.2137-5015A>C XP_016869318.1:p.=
XM_017013831.2:c.1936-5015A>C XP_016869320.1:p.=
XM_017013832.2:c.1935+39585A>C XP_016869321.1:p.=
XM_017013833.2:c.2137-5015A>C XP_016869322.1:p.=
XR_001745596.2:n.2190-5015A>C
NM_024596.5:c.2137-5015A>C VV MANE Preferred NP_078872.3:p.=
NM_001322042.2:c.2137-5015A>C VV NP_001308971.2:p.=
NM_001363980.2:c.1935+39585A>C VV NP_001350909.1:p.=
ENST00000344683.9:c.2137-5015A>C ENSP00000342924.5:p.=
ENST00000519221.5:n.244-5015A>C
ENST00000521129.1:n.295-5015A>C