LDH info

Canonical Allele Identifier: CA229907185
Gene: SORL1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs11218342

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121563719T>C , CM000673.2:g.121563719T>C GRCh38
NC_000011.9:g.121434428T>C , CM000673.1:g.121434428T>C GRCh37
NC_000011.8:g.120939638T>C NCBI36
NG_023313.1:g.116468T>C

Transcript Alleles

HGVS Amino-acid change
NM_003105.5:c.3050-3221T>C VV NP_003096.1:p.=
XM_011542963.1:c.3050-3221T>C XP_011541265.1:p.=
XM_011542964.1:c.3050-3221T>C XP_011541266.1:p.=
XM_011542965.1:c.1511-3221T>C XP_011541267.1:p.=
XM_011542966.1:c.410-3221T>C XP_011541268.1:p.=
XM_011542963.3:c.3050-3221T>C XP_011541265.1:p.=
XM_011542965.3:c.1511-3221T>C XP_011541267.1:p.=
XM_017018169.2:c.2738-3221T>C XP_016873658.1:p.=
XM_017018170.2:c.2525-3221T>C XP_016873659.1:p.=
XM_017018171.1:c.3050-3221T>C XP_016873660.1:p.=
XM_017018172.2:c.410-3221T>C XP_016873661.1:p.=
NM_003105.6:c.3050-3221T>C VV MANE Preferred NP_003096.2:p.=
ENST00000260197.11:c.3050-3221T>C ENSP00000260197.6:p.=