LDH info

Canonical Allele Identifier: CA262886201
Gene: ACTN1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs117672662

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.68958750T>C , CM000676.2:g.68958750T>C GRCh38
NC_000014.8:g.69425467T>C , CM000676.1:g.69425467T>C GRCh37
NC_000014.7:g.68495220T>C NCBI36
NG_029480.1:g.25617A>G , LRG_886:g.25617A>G

Transcript Alleles

HGVS Amino-acid change
NM_001102.3:c.105+20202A>G VV NP_001093.1:p.=
NM_001130004.1:c.105+20202A>G , LRG_886t1:c.105+20202A>G NP_001123476.1:p.=
NM_001130005.1:c.105+20202A>G VV NP_001123477.1:p.=
XM_011537269.1:c.105+20202A>G XP_011535571.1:p.=
XM_011537270.1:c.42+19467A>G XP_011535572.1:p.=
XM_011537271.1:c.42+19467A>G XP_011535573.1:p.=
XM_017021722.2:c.105+20202A>G XP_016877211.1:p.=
XM_017021723.2:c.105+20202A>G XP_016877212.1:p.=
XM_017021725.1:c.42+19467A>G XP_016877214.1:p.=
XM_017021726.2:c.42+19467A>G XP_016877215.1:p.=
XM_017021727.2:c.105+20202A>G XP_016877216.1:p.=
XM_017021728.2:c.42+19467A>G XP_016877217.1:p.=
NM_001102.4:c.105+20202A>G VV NP_001093.1:p.=
NM_001130005.2:c.105+20202A>G VV NP_001123477.1:p.=
ENST00000193403.10:c.105+20202A>G ENSP00000193403.6:p.=
ENST00000376839.7:c.-91+18628A>G ENSP00000366035.3:p.=
ENST00000394419.8:c.105+20202A>G ENSP00000377941.4:p.=
ENST00000438964.6:c.105+20202A>G ENSP00000414272.2:p.=
ENST00000538545.6:c.105+20202A>G ENSP00000439828.2:p.=
ENST00000553370.5:c.-91+18824A>G ENSP00000450925.1:p.=
ENST00000553659.1:c.102+19200A>G ENSP00000451086.1:p.=
ENST00000555616.5:c.-91+19427A>G ENSP00000450903.1:p.=
ENST00000556433.5:c.42+19467A>G ENSP00000450764.1:p.=
ENST00000556571.1:c.36+19266A>G ENSP00000452423.1:p.=