LDH info

Canonical Allele Identifier: CA16044403
Gene: APOE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 375636
ClinVar RCV Id: RCV000417087
dbSNP Id: rs200703101

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908757G>T , CM000681.2:g.44908757G>T GRCh38
NC_000019.9:g.45412014G>T , CM000681.1:g.45412014G>T GRCh37
NC_000019.8:g.50103854G>T NCBI36
NG_007084.2:g.7976G>T

Transcript Alleles

HGVS Amino-acid change
NM_000041.3:c.461G>T VV NP_000032.1:p.Arg154Leu
NM_001302688.1:c.539G>T VV NP_001289617.1:p.Arg180Leu
NM_001302689.1:c.461G>T VV NP_001289618.1:p.Arg154Leu
NM_001302690.1:c.461G>T VV NP_001289619.1:p.Arg154Leu
NM_001302691.1:c.461G>T VV NP_001289620.1:p.Arg154Leu
NM_000041.4:c.461G>T VV MANE Preferred NP_000032.1:p.Arg154Leu
NM_001302688.2:c.539G>T VV NP_001289617.1:p.Arg180Leu
NM_001302689.2:c.461G>T VV NP_001289618.1:p.Arg154Leu
NM_001302691.2:c.461G>T VV NP_001289620.1:p.Arg154Leu
ENST00000252486.8:c.461G>T ENSP00000252486.3:p.Arg154Leu
ENST00000425718.1:c.461G>T ENSP00000410423.1:p.Arg154Leu
ENST00000434152.5:c.539G>T ENSP00000413653.2:p.Arg180Leu
ENST00000446996.5:c.461G>T ENSP00000413135.1:p.Arg154Leu