LDH info

Canonical Allele Identifier: CA6328666
Gene: SORL1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2298813

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522975G>A , CM000673.2:g.121522975G>A GRCh38
NC_000011.9:g.121393684G>A , CM000673.1:g.121393684G>A GRCh37
NC_000011.8:g.120898894G>A NCBI36
NG_023313.1:g.75724G>A

Transcript Alleles

HGVS Amino-acid change
NM_003105.5:c.1582G>A VV NP_003096.1:p.Ala528Thr
XM_011542963.1:c.1582G>A XP_011541265.1:p.Ala528Thr
XM_011542964.1:c.1582G>A XP_011541266.1:p.Ala528Thr
XM_011542965.1:c.-41G>A XP_011541267.1:p.=
XM_011542963.3:c.1582G>A XP_011541265.1:p.Ala528Thr
XM_011542965.3:c.-41G>A XP_011541267.1:p.=
XM_017018169.2:c.1270G>A XP_016873658.1:p.Ala424Thr
XM_017018170.2:c.1057G>A XP_016873659.1:p.Ala353Thr
XM_017018171.1:c.1582G>A XP_016873660.1:p.Ala528Thr
NM_003105.6:c.1582G>A VV MANE Preferred NP_003096.2:p.Ala528Thr
ENST00000260197.11:c.1582G>A ENSP00000260197.6:p.Ala528Thr
ENST00000532451.1:n.1534G>A