LDH info

Canonical Allele Identifier: CA13431348
Gene: SORL1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs726601

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121610698C>T , CM000673.2:g.121610698C>T GRCh38
NC_000011.9:g.121481407C>T , CM000673.1:g.121481407C>T GRCh37
NC_000011.8:g.120986617C>T NCBI36
NG_023313.1:g.163447C>T

Transcript Alleles

HGVS Amino-acid change
NM_003105.5:c.5240-378C>T VV NP_003096.1:p.=
XM_011542963.1:c.5126-378C>T XP_011541265.1:p.=
XM_011542964.1:c.*48-378C>T XP_011541266.1:p.=
XM_011542965.1:c.3701-378C>T XP_011541267.1:p.=
XM_011542966.1:c.2600-378C>T XP_011541268.1:p.=
XM_011542967.1:c.2072-378C>T XP_011541269.1:p.=
XM_011542963.3:c.5126-378C>T XP_011541265.1:p.=
XM_011542965.3:c.3701-378C>T XP_011541267.1:p.=
XM_011542967.3:c.2072-378C>T XP_011541269.1:p.=
XM_017018169.2:c.4928-378C>T XP_016873658.1:p.=
XM_017018170.2:c.4715-378C>T XP_016873659.1:p.=
XM_017018171.1:c.*1214C>T XP_016873660.1:p.=
XM_017018172.2:c.2600-378C>T XP_016873661.1:p.=
NM_003105.6:c.5240-378C>T VV MANE Preferred NP_003096.2:p.=
ENST00000260197.11:c.5240-378C>T ENSP00000260197.6:p.=
ENST00000525532.5:c.2072-378C>T ENSP00000434634.1:p.=
ENST00000527934.1:c.1085-378C>T ENSP00000435405.1:p.=
ENST00000528339.5:n.2499C>T
ENST00000532694.5:c.1778-378C>T ENSP00000432131.1:p.=
ENST00000534286.5:c.1970-378C>T ENSP00000436447.1:p.=