LDH info

Canonical Allele Identifier: CA15709331
Gene: SORL1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2298525

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121490306G>A , CM000673.2:g.121490306G>A GRCh38
NC_000011.9:g.121361015G>A , CM000673.1:g.121361015G>A GRCh37
NC_000011.8:g.120866225G>A NCBI36
NG_023313.1:g.43055G>A

Transcript Alleles

HGVS Amino-acid change
NM_003105.5:c.758+196G>A VV NP_003096.1:p.=
XM_011542963.1:c.758+196G>A XP_011541265.1:p.=
XM_011542964.1:c.758+196G>A XP_011541266.1:p.=
XM_011542963.3:c.758+196G>A XP_011541265.1:p.=
XM_017018169.2:c.446+196G>A XP_016873658.1:p.=
XM_017018170.2:c.233+196G>A XP_016873659.1:p.=
XM_017018171.1:c.758+196G>A XP_016873660.1:p.=
NM_003105.6:c.758+196G>A VV MANE Preferred NP_003096.2:p.=
ENST00000260197.11:c.758+196G>A ENSP00000260197.6:p.=
ENST00000532451.1:n.710+196G>A