LDH info

Canonical Allele Identifier: CA6328479
Gene: SORL1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs12364988

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121496917T>C , CM000673.2:g.121496917T>C GRCh38
NC_000011.9:g.121367626T>C , CM000673.1:g.121367626T>C GRCh37
NC_000011.8:g.120872836T>C NCBI36
NG_023313.1:g.49666T>C

Transcript Alleles

HGVS Amino-acid change
NM_003105.5:c.807T>C VV NP_003096.1:p.His269=
XM_011542963.1:c.807T>C XP_011541265.1:p.His269=
XM_011542964.1:c.807T>C XP_011541266.1:p.His269=
XM_011542963.3:c.807T>C XP_011541265.1:p.His269=
XM_017018169.2:c.495T>C XP_016873658.1:p.His165=
XM_017018170.2:c.282T>C XP_016873659.1:p.His94=
XM_017018171.1:c.807T>C XP_016873660.1:p.His269=
NM_003105.6:c.807T>C VV MANE Preferred NP_003096.2:p.His269=
ENST00000260197.11:c.807T>C ENSP00000260197.6:p.His269=
ENST00000532451.1:n.759T>C